- ICH GCP
- US Clinical Trials Registry
- Klinisk forsøg NCT07837336
An Evaluation of Nutritional Status, Body Composition, and Dietary Intakes of Filipino Pediatric Patients With Inborn Errors of Intermediary Protein Metabolism (Project SIBS)
In the Philippines, a disease is considered rare if it affects one in every 20,000 individuals. About 75% of rare diseases in the country, including inborn errors of intermediary protein metabolism (IEIPM), are of genetic in origin with symptoms beginning in early infancy with about 30 percent of patients dying before the age of five. Diagnosing nutritional problems in pediatrics with IEIPM is challenging due to the potential absence or masking of early signs and symptoms. Nutrition care is more difficult to manage since dietary modification for these patients require extraordinary and diligent attention as an uncontrolled or poorly managed diet can lead to severe health conditions. Its detrimental effects are irreversible and might last until adulthood affecting the overall quality of life and well-being of the child and increasing the burden on parents and families. Hence, there is a compelling impetus to gain further understanding on these aspects, particularly at the earliest stages of growth and development. However, previous studies in the Philippines that have specifically focused on the nutritional needs of pediatric patients with IEIPM are scarce. Therefore, this underscores the imperative need to carry out thorough evaluation of the nutritional characteristics of Filipino neonates, infants, children, and adolescents who have been diagnosed with IEIPM.
This study will provide information on nutritional status among pediatric patients with IEIPM in the local setting. The results will form a potential basis for incorporating rare diseases in the comprehensive nutrition program at the local government units focusing on the targeted special needs of this vulnerable group. The data on the dietary intakes will provide clinicians a better picture of the overall nutritional intake and the specific nutrients that may be lacking for optimal growth and development of infants and children under a restricted special diet. Moreover, this may also provide an opportunity to evaluate the adapted nutritional management guidelines being implemented in the continuity clinics in the country. Lastlly, the knowledge that will be generated will lead to a better understanding of the relationship between nutritional status, body composition, dietary intake, and some of the important biochemical and clinical outcomes that can guide the development of appropriate nutrition policies, guidelines tailored to fit the Filipino pediatric population with IEIPM. This study on IEIPM which covers amino acid disorders, organic acidemias, and urea cycle defects, recognizes the crucial role of research in defining health programs and activities for these rare conditions in support of the Republic Act no. 10747, also known as the Rare Diseases Act of the Philippines.
Studieoversigt
Status
Detaljeret beskrivelse
The general objective of the study is to evaluate the nutritional status, growth, body composition, selected biochemical and clinical parameters, and dietary intakes of Filipino pediatric patients, aged 0 months-18 years old, diagnosed with Inborn Errors of Intermediary Protein Metabolism (IEIPM) who are receiving medical and dietary treatment. Specifically, the study aims to:
- To compare the changes in nutritional status, body composition, dietary intake, selected biochemical, clinical parameters such as medical history and clinical presentations, anthropometric parameters such as height/length, weight and head circumference of pediatric patients diagnosed with IEIPM versus their age- and sex-matched healthy controls from baseline (month 0) to endline (month 12) assessment;
- To assess the adequacy and distribution of energy, macro-and micronutrient intake from natural food, medical food, and combination of natural and medical food consumption of pediatric patients diagnosed with IEIPM from baseline (month 0) to endline (month 12) assessment;
- To determine the association between nutritional status and body composition with dietary intakes, selected biochemical and clinical parameters;
- To determine a safe protein-energy ratio (P:E ratio) associated with optimal nutritional status, growth, and body composition among Filipino pediatric patients with IEIPM; and
- To determine caregivers' experiences, perceptions, and practices related to the dietary management of Maple Syrup Urine Disease (MSUD).
Undersøgelsestype
Tilmelding (Anslået)
Kontakter og lokationer
Studiekontakt
- Navn: Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
Undersøgelse Kontakt Backup
- Navn: Ebner Bon G. Maceda, MD, FPPS
- Telefonnummer: 63 2 8526-1725
- E-mail: egmaceda@up.edu.ph
Studiesteder
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Batangas
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Batangas, Batangas, Filippinerne, 4200
- Ikke rekrutterer endnu
- Batangas Medical Center
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Kontakt:
- Carolyn I. Boongaling, MD, FPPS, FPSPME
- Telefonnummer: (043) 740 8307
- E-mail: krolbongga@gmail.com
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
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Ledende efterforsker:
- Carolyn I. Boongaling, MD, FPPS, FPSPME
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Bulacan
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Malolos, Bulacan, Filippinerne, 3000
- Rekruttering
- Bulacan Medical Center
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
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Kontakt:
- Ebner Bon G. Maceda, MD, FPPS
- Telefonnummer: 63 2 8526-1725
- E-mail: egmaceda@up.edu.ph
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Ledende efterforsker:
- Jason Paolo H. Labrador, RND, MSPH
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Cavite
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Trece Martires, Cavite, Filippinerne, 4109
- Rekruttering
- General Emilio Aguinaldo Memorial Hospital
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
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Kontakt:
- Laura Maria Soledad A. Aguinaldo, MD, FPPS, FPSCOT, MSc
- Telefonnummer: (046) 419 1716
- E-mail: laguinaldo@up.edu.ph
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Ledende efterforsker:
- Laura Maria Soledad A. Aguinaldo, MD, FPPS, FPSCOT, MSc
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Cebu
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Cebu, Cebu, Filippinerne, 6000
- Ikke rekrutterer endnu
- Vicente Sotto Memorial Medical Center
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
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Kontakt:
- Ma. Rita Anna S. Boligao, MD, FPPS
- Telefonnummer: (032) 253 9891
- E-mail: mrboligao@up.edu.ph
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Ledende efterforsker:
- Ma. Rita Anna S. Boligao, MD, FPPS
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Laguna
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Calamba, Laguna, Filippinerne, 4027
- Rekruttering
- Dr. Jose P. Rizal Memorial District Hospital
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
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Kontakt:
- Ebner Bon G. Maceda, MD, FPPS
- Telefonnummer: 63 2 8526-1725
- E-mail: egmaceda@up.edu.ph
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Ledende efterforsker:
- Jason Paolo H. Labrador, RND, MSPH
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Manila
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Manila, Manila, Filippinerne, 1000
- Rekruttering
- University of the Philippines, Philippine General Hospital
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Kontakt:
- Ebner Bon G. Maceda, MD, FPPS
- Telefonnummer: 63 2 8526-1725
- E-mail: egmaceda@up.edu.ph
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Kontakt:
- Kevina Mariz M. Dajoyag, RN, MSGC
- Telefonnummer: 63 2 8526-1725
- E-mail: kmdajoyag@up.edu.ph
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Ledende efterforsker:
- Ebner Bon G. Maceda, MD, FPPS
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Underforsker:
- Kevina Mariz M. Dajoyag, RN, MSGC
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Misamis Oriental
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Cagayan de Oro, Misamis Oriental, Filippinerne, 9000
- Rekruttering
- Northern Mindanao Medical Center
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Kontakt:
- Celenia-Jo S. Cagata, MD, FPPS
- Telefonnummer: (088) 856-5490
- E-mail: celeniacagata.md@gmail.com
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Kontakt:
- Hezel F. Jurial, MD, DPPS
- Telefonnummer: (088) 856-5490
- E-mail: hfjurial@up.edu.ph
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Ledende efterforsker:
- Celenia-Jo S. Cagata, MD, DPPS
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Underforsker:
- Hezel F. Jurial, MD, DPPS
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National Capital Region
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City of Taguig, National Capital Region, Filippinerne, 1633
- Ikke rekrutterer endnu
- Taguig City Health Centers
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
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Ledende efterforsker:
- Jason Paolo H. Labrador, RND, MSPH
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Kontakt:
- Alexandra Lyne E. David, RND
- Telefonnummer: local 308 8837-8113
- E-mail: alexandralyneedavid@gmail.com
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Paranaque City, National Capital Region, Filippinerne, 1711
- Rekruttering
- Parañaque Health Centers
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
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Ledende efterforsker:
- Jason Paolo H. Labrador, RND, MSPH
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Kontakt:
- Alexandra Lyne E. David, RND
- Telefonnummer: local 308 8837-8113
- E-mail: alexandralyneedavid@gmail.com
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Pateros, National Capital Region, Filippinerne, 1620
- Rekruttering
- Pateros Health Centers
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
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Ledende efterforsker:
- Jason Paolo H. Labrador, RND, MSPH
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Kontakt:
- Alexandra Lyne E. David, RND
- Telefonnummer: local 308 8837-8113
- E-mail: alexandralyneedavid@gmail.com
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Quezon City, National Capital Region, Filippinerne, 1105
- Ikke rekrutterer endnu
- Philippine Children's Medical Center
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
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Kontakt:
- Teresa B. Bangcaya, MD, DPPS
- Telefonnummer: (02) 8588-9900
- E-mail: teresabangcaya@gmail.com
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Ledende efterforsker:
- Teresa B. Bangcaya, MD, DPPS
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Nueva Ecija
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Cabanatuan City, Nueva Ecija, Filippinerne, 3100
- Rekruttering
- Dr. Paulino J. Garcia Memorial Research and Medical Center
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
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Kontakt:
- Leah Mae C. Besa, MD
- Telefonnummer: (044) 463 8888
- E-mail: leahmaecruzmd@gmail.com
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Ledende efterforsker:
- Leah Mae C. Besa, MD
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Pampanga
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San Fernando City, Pampanga, Filippinerne, 2000
- Rekruttering
- Jose B. Lingad Memorial General Hospital
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
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Kontakt:
- Vianney Marie C. Mandapat, MD, MHM, FPPS, DPAPP
- Telefonnummer: (045) 409-6688
- E-mail: viani_10@yahoo.com
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Ledende efterforsker:
- Vianney Marie C. Mandapat, MD, MHM, FPPS, DPAPP
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Quezon
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Lucena City, Quezon, Filippinerne, 4301
- Rekruttering
- Quezon Medical Center
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Kontakt:
- Jason Paolo H. Labrador, RND, MSPH
- Telefonnummer: local 308 8837-8113
- E-mail: jasonpaolo.labrador@fnri.dost.gov.ph
-
Kontakt:
- Josephine Leiya Marie F. Salud-Masanga, MD, FPPS, FPSPME
- Telefonnummer: (042) 717 6323
- E-mail: drsaludmasangaclinic@gmail.com
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Ledende efterforsker:
- Josephine Leiya Marie F. Salud-Masanga, MD, FPPS, FPSPME
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Deltagelseskriterier
Berettigelseskriterier
Aldre berettiget til at studere
Tager imod sunde frivillige
Køn, der er berettiget til at studere
Prøveudtagningsmetode
Studiebefolkning
The study will involve 140 Filipino pediatric patients with IEIPM from the identified eleven (11) Newborn Screening Continuity Clinics (NBSCC) from NCR, Region III, IV-A, VII, and X. The 36 age- and sex-matched controls will be recruited from the health centers of Taguig, Pateros, and Parañaque in Metro Manila.
Beskrivelse
IEIPM PATIENTS
Inclusion Criteria
- Confirmed to have Amino Acid Disorders, Organic Acidurias, and Urea Cycle Defects by newborn screening or by biochemical testing in urine or plasma
- Included in the metabolic registry of the Institute of Human Genetics-National Institutes of Health (IHG-NIH) and seen at the identified Newborn Screening Continuity Clinics (study sites)
- With at least one (1) month of active medical treatment and/or with regular follow-up
- The participant/parent/guardian or any legally acceptable representative consented to participate in the study
Exclusion Criteria
- With co-existing conditions not part of IEIPM and its complications (i.e. multiple congenital anomalies, hypoxic-ischemic encephalopathy, central brain abnormalities, any diagnosed systematic organic illness (e.g., renal, heart, or thyroid disease) or any suspected acute metabolic conditions other than IEIPM;
- Currently enrolled in other research studies with intervention study design
AGE- AND SEX-MATCHED HEALTHY CONTROLS
Inclusion Criteria
- Apparently healthy children, ages 0 month to 18 years and 364 days old at the time of the study recruitment;
- Without any diagnosed genetic and/or metabolic disorders
- With normal nutritional status (based on WHO CGS and Growth Reference 2007)
- The participant/parent/guardian or any legally acceptable representative consented to participate in the study
Exclusion Criteria
- Diagnosed with any genetic and/or metabolic disorders
- With any chronic illnesses known to affect growth and nutritional status
- Currently enrolled in other research studies with intervention study design
Studieplan
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
- Observationsmodeller: COHORT
- Tidsperspektiver: PROSPECTIVE
Kohorter og interventioner
Gruppe / kohorte |
|---|
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IEIPM patients
Eligible pediatric patients diagnosed with Inborn Errors of Intermediary Protein Metabolism |
|
Age- and sex-matched healthy controls
Free-living age- and sex-matched healthy children |
Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
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Weight (in kilograms) and age (in years and months) will be combined to report Weight-for-Age in Z-score
Tidsramme: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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Weight will be measured using a digital baby weighing scale (SECA 354) for children younger than 2 years of age and a double-window digital weighing scale (SECA 874) for children older than 2 years of age. This indicator will be used in children aged 0-10 years. The z-scores will be obtained using the World Health Organization (WHO) Child Growth Standards 2006 and Growth Reference 2007 to determine if the child is normal (-2SD to +2SD), underweight (<-2SD), or severely underweight (<-3SD). |
Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
|
|
Height/Length (in centimeters) and age (in years and months) will be combined to report Height/Length-for-Age in Z-score
Tidsramme: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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Height/length will be measured using an infantometer (SECA 416/417) for children younger than 2 years of age and a stadiometer (SECA 213 I) for children older than 2 years of age. The z-scores will be obtained using the WHO Child Growth Standards 2006 and Growth Reference 2007 to determine if the child is normal (-2SD to +2SD), stunted (<-2SD), or severely stunted (<-3SD). |
Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
|
|
Weight (in kilograms) and height (in centimeters) will be combined to report Weight-for-Height in Z-score
Tidsramme: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
|
This indicator will be used in children aged 0-5 years. The z-scores will be obtained using the WHO Child Growth Standards 2006 to determine if the child is severely wasted (<-3SD), wasted (<-2SD), normal (-2SD to +2SD), overweight (>+2SD), or obese (>+3SD). |
Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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Weight (in kilograms), height (in meters), and age (in years and months) will be combined to report BMI-for-Age in Z-score
Tidsramme: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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Body Mass Index (BMI) will be calculated based on weight and height (kg/m²). The z-scores will be obtained using the WHO Growth Reference 2007 to determine if the child is severely wasted (<-3SD), wasted (<-2SD), normal (-2SD to +2SD), overweight (>+2SD), or obese (>+3SD). |
Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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Head circumference (in centimeters) and age (in years and months) will be combined to report Head circumference-for-Age in Z-score
Tidsramme: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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Head circumference will be measured using a calibrated measuring tape (SECA 212). The z-scores will be obtained using the WHO Child Growth Standards 2006 to determine if the child presented with microcephaly (>-2SD), normal (-2SD to +2SD), or macrocephaly (>+2SD). |
Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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Fat Mass in percentage and in kilograms
Tidsramme: Month 0 (Baseline) and Month 12 (Endline)
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Fat mass will be measured through a Dual-Energy X-ray Absorptiometry scan using the GE Lunar Prodigy model. The values will be analyzed using Hologic Apex Software following the manufacturer's guidelines. |
Month 0 (Baseline) and Month 12 (Endline)
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Lean Mass in kilograms
Tidsramme: Month 0 (Baseline) and Month 12 (Endline)
|
Lean mass will be assessed through a Dual-Energy X-ray Absorptiometry scan using the GE Lunar Prodigy model. The values will be analyzed using Hologic Apex Software following the manufacturer's guidelines. |
Month 0 (Baseline) and Month 12 (Endline)
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Bone Mineral Density (BMD) in g/cm²
Tidsramme: Month 0 (Baseline) and Month 12 (Endline)
|
Bone mineral density will be assessed through a Dual-Energy X-ray Absorptiometry scan using the GE Lunar Prodigy model. The values will be analyzed using Hologic Apex Software following the manufacturer's guidelines. |
Month 0 (Baseline) and Month 12 (Endline)
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Mean Dietary Intake in kilocalories and grams per day
Tidsramme: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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Dietary intake will be obtained using a 3-day non-consecutive food record (two weekdays and one weekend). This will be assessed using the Philippine Food Composition Tables (PhilFCT), the US FDA, and other available databases. Mean intake of energy, macro-, and micronutrients will be reported. |
Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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Diet Adequacy in percentage
Tidsramme: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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The adequacy of intakes will be assessed by calculating the Energy/ Nutrient Adequacy Ratio and recommended requirements will be derived from the condition-specific recommended nutrient intake by the Southeast Regional Genetics Network-Genetic Metabolic Dietitians International, WHO Guidelines, and Philippine Dietary Reference Intakes (2015). |
Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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Protein-to-Energy Ratio (P:E Ratio) in grams protein/100 kilocalories/ day
Tidsramme: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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The P:E ratio expressed will be derived from participants' dietary intake data and compared with the P:E ratio calculated from the 1985 FAO/WHO/UNU equation. |
Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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Sekundære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
|
Plasma Amino Acid concentration in umol/L
Tidsramme: Month 0 (Baseline) and Month 12 (Endline)
|
Levels of free amino acids in the blood plasma will be quantitatively measured. Three (3) mL of whole blood in sodium heparin will be obtained through venipuncture. |
Month 0 (Baseline) and Month 12 (Endline)
|
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Anemia (Low hemoglobin concentration in g/dL)
Tidsramme: Month 0 (Baseline) and Month 12 (Endline)
|
The amount of whole blood in Ethylenediaminetetraacetic acid (EDTA) obtained through venipuncture or finger prick that will be used for analysis is 0.5 mL. To be identified if anemia is present in an individual, hemoglobin levels are low. The values should be below the normal results of the following based on age and sex: 11.0 g/dL for children aged 6 months to 6 years old,12.0 g/dL for 6 to 14 years old,13.0 g/dL for males 15 years old and above, and 12.0 g/dL for females 15 years old and above. |
Month 0 (Baseline) and Month 12 (Endline)
|
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Serum Vitamin A concentration in µg/dL
Tidsramme: Month 0 (Baseline) and Month 12 (Endline)
|
The amount of serum from clotted whole blood obtained through venipuncture that will be used for analysis is 0.5 mL. Retinol values will be considered high if results of participants are greater than 50 µg/dL. |
Month 0 (Baseline) and Month 12 (Endline)
|
|
Serum 25-hydroxyvitamin D concentration in nmol/L
Tidsramme: Month 0 (Baseline) and Month 12 (Endline)
|
The amount of serum from clotted whole blood that will be used for analysis is 0.3 mL. Normal vitamin D levels lie between the values of 75.0-100.0 nmol/L. Results of 74.0 nmol/L and below are considered deficient, while 101.0 nmol/L and above are considered elevated. |
Month 0 (Baseline) and Month 12 (Endline)
|
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Serum Vitamin B12 concentration in pmol/L
Tidsramme: Month 0 (Baseline) and Month 12 (Endline)
|
The amount of serum from clotted whole blood obtained from venipuncture that will be used for analysis is 0.3 mL. Vitamin B12 values are increased when results are above 652 pmol/L. |
Month 0 (Baseline) and Month 12 (Endline)
|
|
Serum Zinc concentration in µg/dL
Tidsramme: Month 0 (Baseline) and Month 12 (Endline)
|
The amount of serum from clotted whole blood obtained through venipuncture that will be used for analysis is 0.5 mL. Normal values of zinc are grouped physiologically and by the time of sample extraction, considering also whether the individual fasted or not. For children aged 10 and below, non-fasting samples are extracted, and results showing concentrations below 65 µg/dL (AM) and 57 µg/dL (PM) are considered deficient. For females aged more than 10 years, results showing concentrations of zinc in the fasting sample below 70 µg/dL and in the non-fasting sample with results below 66 µg/dL(AM) and 59 µg/dL (PM) are considered deficient. For males aged more than 10 years, results showing concentrations of zinc in fasting samples below 74 µg/dL, non-fasting samples with results below 70 µg/dL(AM), and 61 µg/dL (PM) are considered deficient. |
Month 0 (Baseline) and Month 12 (Endline)
|
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Serum Folic Acid concentration in nmol/L
Tidsramme: Month 0 (Baseline) and Month 12 (Endline)
|
Levels of folic acid are measured quantitatively. The amount of serum from clotted whole blood obtained by venipuncture that will be used for analysis is 0.3 mL. |
Month 0 (Baseline) and Month 12 (Endline)
|
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Overall Risk of Malnutrition
Tidsramme: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
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The overall risk of malnutrition will be evaluated using the Pediatric Subjective Global Nutritional Assessment (PSGNA) Form. The PSGNA is used to subjectively assess the nutritional status of children who may be at risk of malnutrition through a nutrition-focused physical exam. Loss of subcutaneous fat will be checked in the orbital, buccal area, upper arm, ribs/midaxillary, and buttocks. Loss of muscle mass in the temple region, clavicle bone, acromion bone, scapular bone and spine regions, anterior thigh, patellar, and calf will be assessed. Lastly, the presence of edema will also be evaluated in the foot, ankles, and sacral area. The classification to determine the risk of malnutrition is as follows:
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Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
|
Andre resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
|
Mean Age at Diagnosis of IEIPM Participants in years and months
Tidsramme: Month 0 (Baseline)
|
The mean age at diagnosis will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form. |
Month 0 (Baseline)
|
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Mean Age at Onset of Symptoms of IEIPM Participants in years and months
Tidsramme: Month 0 (Baseline)
|
The mean age at onset of symptoms will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form. |
Month 0 (Baseline)
|
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Mean Age at Initiation of Treatment of IEIPM Participants in years and months
Tidsramme: Month 0 (Baseline)
|
The mean age at the initiation of treatment will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form. |
Month 0 (Baseline)
|
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Proportion of IEIPM Participants with a History of Inborn Errors of Metabolism (IEM) in the Family (in percentage)
Tidsramme: Month 0 (Baseline)
|
The history of IEM in the family will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form. |
Month 0 (Baseline)
|
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Current Treatments of IEIPM Participants
Tidsramme: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
|
The current treatment will be based on the medical chart of the participant kept in the NBSCCs. This will be recorded in the medical chart extraction form. |
Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
|
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Proportion of IEIPM Participants with Clinical Presentations (in percentage)
Tidsramme: Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
|
The presence of clinical presentations will be based on the latest available developmental assessment of the patients by their respective attending metabolic physician recorded in the medical charts kept in the NBSCCs. The clinical presentations to be documented include developmental delay/ intellectual disability, speech delay, seizures, long tract signs, hypotonia, no visual threat/dazzle, hyperactivity, microcephaly, drooling, esotropia, no reaction to sound, jitteriness, weakness, spasticity, quadriparesis, and others. This will be recorded in the medical chart extraction form. |
Month 0 (Baseline), Month 6 (Midline), and Month 12 (Endline)
|
Samarbejdspartnere og efterforskere
Samarbejdspartnere
Efterforskere
- Ledende efterforsker: Jason Paolo H. Labrador, RND, MSPH, Department of Science and Technology - Food and Nutrition Research Institute
- Ledende efterforsker: Ebner Bon G. Maceda, MD, FPPS, University of the Philippines Manila - Institute of Human Genetics
Publikationer og nyttige links
Generelle publikationer
- World Medical Association. World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects. JAMA. 2013 Nov 27;310(20):2191-4. doi: 10.1001/jama.2013.281053. No abstract available.
- de Onis M, Onyango AW, Borghi E, Siyam A, Nishida C, Siekmann J. Development of a WHO growth reference for school-aged children and adolescents. Bull World Health Organ. 2007 Sep;85(9):660-7. doi: 10.2471/blt.07.043497.
- van Wegberg AMJ, MacDonald A, Ahring K, Belanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Gizewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2.
- Howie SR. Blood sample volumes in child health research: review of safe limits. Bull World Health Organ. 2011 Jan 1;89(1):46-53. doi: 10.2471/BLT.10.080010. Epub 2010 Sep 10.
- WHO Guidelines on Drawing Blood: Best Practices in Phlebotomy. Geneva: World Health Organization; 2010. Available from http://www.ncbi.nlm.nih.gov/books/NBK138650/
- Manoli I, Myles JG, Sloan JL, Shchelochkov OA, Venditti CP. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. Genet Med. 2016 Apr;18(4):386-95. doi: 10.1038/gim.2015.102. Epub 2015 Aug 13.
- Secker DJ, Jeejeebhoy KN. How to perform Subjective Global Nutritional assessment in children. J Acad Nutr Diet. 2012 Mar;112(3):424-431.e6. doi: 10.1016/j.jada.2011.08.039. Epub 2012 Mar 1.
- Secker DJ, Jeejeebhoy KN. Subjective Global Nutritional Assessment for children. Am J Clin Nutr. 2007 Apr;85(4):1083-9. doi: 10.1093/ajcn/85.4.1083.
- van Vught AJ, Heitmann BL, Nieuwenhuizen AG, Veldhorst MA, Brummer RJ, Westerterp-Plantenga MS. Association between dietary protein and change in body composition among children (EYHS). Clin Nutr. 2009 Dec;28(6):684-8. doi: 10.1016/j.clnu.2009.05.001. Epub 2009 Jun 12.
- Philippine Health Research Ethics Board. National ethical guidelines for research involving human participants 2022. Manila: Department of Science and Technology - Philippine Council for Health Research and Development; 2022
- NACB LMPG Committee Members; Myers GL, Christenson RH, Cushman M, Ballantyne CM, Cooper GR, Pfeiffer CM, Grundy SM, Labarthe DR, Levy D, Rifai N, Wilson PW. National Academy of Clinical Biochemistry Laboratory Medicine Practice guidelines: emerging biomarkers for primary prevention of cardiovascular disease. Clin Chem. 2009 Feb;55(2):378-84. doi: 10.1373/clinchem.2008.115899. Epub 2008 Dec 23.
- Department of Science and Technology - Food and Nutrition Research Institute. Philippine nutrition facts and figures 2015: updating of nutritional status of Filipino children and other population groups overview. Taguig City: DOST-FNRI; 2016.
- Department of Science and Technology - Food and Nutrition Research Institute. Philippine nutrition facts and figures 2013: biochemical survey. 2nd ed. Taguig City: FNRI-DOST; 2015.
- Department of Science and Technology - Food and Nutrition Research Institute. Philippine Dietary Reference Intakes. Bicutan, Taguig City: DOST-FNRI; 2015.
- World Health Organization. Healthy diet. Geneva: World Health Organization; 2020 Apr 19. Available from: https://www.who.int/news-room/fact-sheets/detail/healthy-diet
- Southeast Regional Genetics Network, Genetic Metabolic Dietitians International. Nutrition Management Guidelines. SERN/GMDI; 2013. Available from: https://managementguidelines.net/
- World Health Organization. WHO child growth standards: length/height-for-age, weight-for-age, weight-for-length, weight-for-height and body mass index-for-age: methods and development. Geneva: World Health Organization; 2006.
- Peplow C, Assfalg R, Beyerlein A, Hasford J, Bonifacio E, Ziegler AG. Blood draws up to 3% of blood volume in clinical trials are safe in children. Acta Paediatr. 2019 May;108(5):940-944. doi: 10.1111/apa.14607. Epub 2018 Oct 30.
- Kulkarni B, Mamidi RS, Balakrishna N, Radhakrishna KV. Body composition assessment in infancy and early childhood: comparison of anthropometry with dual-energy X-ray absorptiometry in low-income group children from India. Eur J Clin Nutr. 2014 Jun;68(6):658-63. doi: 10.1038/ejcn.2014.37. Epub 2014 Mar 19.
- Wong MC, Ng BK, Kennedy SF, Hwaung P, Liu EY, Kelly NN, Pagano IS, Garber AK, Chow DC, Heymsfield SB, Shepherd JA. Children and Adolescents' Anthropometrics Body Composition from 3-D Optical Surface Scans. Obesity (Silver Spring). 2019 Nov;27(11):1738-1749. doi: 10.1002/oby.22637.
- Song C, Zhu M, Zheng R, Hu Y, Li R, Zhu G, Chen L, Xiong F. Analysis of bone mass and its relationship with body composition in school-aged children and adolescents based on stage of puberty and site specificity: A retrospective case-control study. Medicine (Baltimore). 2019 Feb;98(8):e14005. doi: 10.1097/MD.0000000000014005.
- Krueger RA, Casey MA. Focus groups: A practical guide for applied research. 5th ed. Thousand Oaks, CA: SAGE Publications; 2015.
- Cole JA, Taylor JS, Hangartner TN, Weinreb NJ, Mistry PK, Khan A. Reducing selection bias in case-control studies from rare disease registries. Orphanet J Rare Dis. 2011 Sep 12;6:61. doi: 10.1186/1750-1172-6-61.
- MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Belanger-Quintana A, Burlina A, Campistol J, Coskun T, Feillet F, Gizewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ. PKU dietary handbook to accompany PKU guidelines. Orphanet J Rare Dis. 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y.
- Stroup BM, Sawin EA, Murali SG, Binkley N, Hansen KE, Ney DM. Amino Acid Medical Foods Provide a High Dietary Acid Load and Increase Urinary Excretion of Renal Net Acid, Calcium, and Magnesium Compared with Glycomacropeptide Medical Foods in Phenylketonuria. J Nutr Metab. 2017;2017:1909101. doi: 10.1155/2017/1909101. Epub 2017 May 4.
- Andersson HC. Dietary guidelines for inborn errors of metabolism. J Pediatr. 2017 Sep;188:1-2. doi: 10.1016/j.jpeds.2017.07.020. No abstract available.
- Millward DJ. Macronutrient intakes as determinants of dietary protein and amino acid adequacy. J Nutr. 2004 Jun;134(6 Suppl):1588S-1596S. doi: 10.1093/jn/134.6.1588S.
- Humphrey M, Truby H, Boneh A. New ways of defining protein and energy relationships in inborn errors of metabolism. Mol Genet Metab. 2014 Aug;112(4):247-58. doi: 10.1016/j.ymgme.2014.05.008. Epub 2014 May 22.
- Pretese R, Bonfanti C, Faraguna MC, Fantasia M, Crescitelli V, Barzaghi S, Botti M, Mezzanotti G, Gasperini S. The Impact of Diet on Body Composition in a Cohort of Pediatric and Adult Patients with Maple Syrup Urine Disease. Nutrients. 2024 Sep 18;16(18):3145. doi: 10.3390/nu16183145.
- Campo K, Castro G, Hamilton V, Cabello JF, Raimann E, Arias C, Cornejo V. Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD). JIMD Rep. 2016;26:69-76. doi: 10.1007/8904_2015_500. Epub 2015 Oct 13.
- Weng HL, Yang FJ, Chen PR, Hwu WL, Lee NC, Chien YH. Dietary intake and nutritional status of patients with phenylketonuria in Taiwan. Sci Rep. 2020 Sep 3;10(1):14537. doi: 10.1038/s41598-020-71361-8.
- Tavil B, Sivri HS, Coskun T, Gurgey A, Ozyurek E, Dursun A, Tokatli A, Altay C, Gumruk F. Haematological findings in children with inborn errors of metabolism. J Inherit Metab Dis. 2006 Oct;29(5):607-11. doi: 10.1007/s10545-006-0379-8. Epub 2006 Aug 12.
- Fiese BH, Everhart RS. Medical adherence and childhood chronic illness: family daily management skills and emotional climate as emerging contributors. Curr Opin Pediatr. 2006 Oct;18(5):551-7. doi: 10.1097/01.mop.0000245357.68207.9b.
- Blackburn PR, Gass JM, Vairo FPE, Farnham KM, Atwal HK, Macklin S, Klee EW, Atwal PS. Maple syrup urine disease: mechanisms and management. Appl Clin Genet. 2017 Sep 6;10:57-66. doi: 10.2147/TACG.S125962. eCollection 2017.
- MaCdonald A, van Rijn M, Feillet F, Lund AM, Bernstein L, Bosch AM, Gizewska M, van Spronsen FJ. Adherence issues in inherited metabolic disorders treated by low natural protein diets. Ann Nutr Metab. 2012;61(4):289-95. doi: 10.1159/000342256. Epub 2012 Dec 3.
- Chiong MA, Tan MA, Cordero CP, Fodra EG, Manliguis JS, Lopez CP, Dalmacio LM. Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features. Mol Genet Metab Rep. 2016 Oct 12;9:46-53. doi: 10.1016/j.ymgmr.2016.10.004. eCollection 2016 Dec.
- Ribeiro RV, Solon-Biet SM, Pulpitel T, Senior AM, Cogger VC, Clark X, O'Sullivan J, Koay YC, Hirani V, Blyth FM, Seibel MJ, Waite LM, Naganathan V, Cumming RG, Handelsman DJ, Simpson SJ, Le Couteur DG. Of Older Mice and Men: Branched-Chain Amino Acids and Body Composition. Nutrients. 2019 Aug 13;11(8):1882. doi: 10.3390/nu11081882.
- Rodrigues C, Pinto A, Faria A, Teixeira D, van Wegberg AMJ, Ahring K, Feillet F, Calhau C, MacDonald A, Moreira-Rosario A, Rocha JC. Is the Phenylalanine-Restricted Diet a Risk Factor for Overweight or Obesity in Patients with Phenylketonuria (PKU)? A Systematic Review and Meta-Analysis. Nutrients. 2021 Sep 28;13(10):3443. doi: 10.3390/nu13103443.
- Kenneson A, Osara Y, Pringle T, Youngborg L, Singh RH. Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry. Mol Genet Metab Rep. 2018 Jan 28;15:22-27. doi: 10.1016/j.ymgmr.2018.01.001. eCollection 2018 Jun. No abstract available.
- Molema F, Haijes HA, Janssen MC, Bosch AM, van Spronsen FJ, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Fuchs S, Langendonk JG, Rizopoulos D, van Hasselt PM, Williams M. High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome. Clin Nutr. 2021 May;40(5):3622-3630. doi: 10.1016/j.clnu.2020.12.027. Epub 2020 Dec 25.
- Kong JP, Rajikan RB. Growth and nutritional status of children with maple syrup urine disease (MSUD): A 6-months follow up study in Institute of Pediatric, Hospital Kuala Lumpur (HKL). Nutr Food Sci. 2015;45(2):286-301. doi:10.1108/NFS-08-2014-0077
- Tajima T. Newborn Screening in Japan-2021. Int J Neonatal Screen. 2022 Jan 4;8(1):3. doi: 10.3390/ijns8010003.
- Rajadurai VS, Yip WY, Lim JSC, Khoo PC, Tan ES, Mahadev A, et al. Evolution and expansion of newborn screening programmes in Singapore. Singapore Med J. 2021;62(1 Suppl):S26-S35. doi:10.11622/smedj.2021073
- Abad PJ, Tumulak MJ, Guerbo R, de Castro-Hamoy L, Bautista NG, Nuique R, Jacalan FI, Talapian GL, Felipe-Dimog EB, Lagarde JB, Plaga SJ, Jover EJ, Morales KD, Canoy GM, Laurino MY. Landscape of genetic counseling in the Philippines. J Genet Couns. 2024 Oct;33(5):934-942. doi: 10.1002/jgc4.1804. Epub 2023 Oct 25.
- Newborn Screening Reference Center. Centers & Facilities [Internet]. Manila: NSRC; [cited 2026 Mar 3]. Available from: https://newbornscreening.ph/centers-and -facilities/?tab=ccs
- Gemina GDP. Awareness and Availment of Perinatal Care Services by Reproductive Mothers in Naga City [master's thesis]. Naga City: Camarines Sur Polytechnic Colleges; 2024.
- Pambid RC. Factors influencing mothers' utilization of maternal and child care (MCC) services. Asia Pac J Multidiscipl Res. 2015;3(5):16-28.
- Therrell BL, Padilla CD, Borrajo GJC, Khneisser I, Schielen PCJI, Knight-Madden J, Malherbe HL, Kase M. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020-2023). Int J Neonatal Screen. 2024 May 23;10(2):38. doi: 10.3390/ijns10020038.
- Hodge A, Firth S, Bermejo R 3rd, Zeck W, Jimenez-Soto E. Utilisation of health services and the poor: deconstructing wealth-based differences in facility-based delivery in the Philippines. BMC Public Health. 2016 Jul 6;16:523. doi: 10.1186/s12889-016-3148-0.
- Rode J. Rare diseases: understanding this public health priority. Paris: EURORDIS; 2005.
- Department of Health (PH). National Policy and Strategic Framework on Expanded Newborn Screening for 2017-2030. Administrative Order No. 2018-0025. Manila: DOH; 2018.
- Philippine Health Insurance Corporation. Enhancement of PhilHealth Newborn Care Package. PhilHealth Circular No. 2018-0021. Pasig City: PhilHealth; 2018.
- Philippine Health Insurance Corporation. Implementing Guidelines for Universal Health Care Primary Care Benefit I (PCB1) Package for Transition Period CY 2012-2013. PhilHealth Circular No. 010, s. 2012. Pasig City: PhilHealth; 2012.
- Padilla CD, Therrell BL Jr, Alcausin MMLB, Chiong MAD, Abacan MAR, Reyes MEL, Jomento CM, Dizon-Escoreal MTT, Canlas MAE, Abadingo ME, Posecion JEWC, Abarquez CG, Andal AP, Elizaga ALG, Halili-Mendoza BC, Otayza MPVK, Millington DS. Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry. Int J Neonatal Screen. 2022 Jan 19;8(1):8. doi: 10.3390/ijns8010008.
- Zapico FL, Aguilar CHM, Lasalita ATC, Jamerlan RP. Congenital anomalies among live-born neonates in five major hospitals (2006-2008), General Santos City, Philippines. USM R D J. 2010;18(2):141-8.
- De Castro-Hamoy LG, Chiong MA, Estrada SC, Cordero CP. Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country. J Community Genet. 2017 Jan;8(1):9-15. doi: 10.1007/s12687-016-0281-5. Epub 2016 Oct 6.
- Handoom B, Megdad E, Al-Qasabi D, Al Mesned M, Hawary R, Al-Nufiee S, Al-Hassnan Z, Alsayed MD, Eldali A. The effects of low protein products availability on growth parameters and metabolic control in selected amino acid metabolism disorders patients. Int J Pediatr Adolesc Med. 2018 Jun;5(2):60-68. doi: 10.1016/j.ijpam.2018.04.001. Epub 2018 Jun 14.
- Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, Shellmer D, Moser AB, Morton DH. Classical maple syrup urine disease and brain development: principles of management and formula design. Mol Genet Metab. 2010 Apr;99(4):333-45. doi: 10.1016/j.ymgme.2009.12.007. Epub 2010 Jan 12.
- Schonberger S, Schweiger B, Schwahn B, Schwarz M, Wendel U. Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease. Mol Genet Metab. 2004 May;82(1):69-75. doi: 10.1016/j.ymgme.2004.01.016.
- Gugelmo G, Lenzini L, Francini-Pesenti F, Fasan I, Spinella P, Valentini R, Miraval A, Avogaro A, Vitturi N. Anthropometrics, Dietary Intake and Body Composition in Urea Cycle Disorders and Branched Chain Organic Acidemias: A Case Study of 18 Adults on Low-Protein Diets. Nutrients. 2022 Jan 21;14(3):467. doi: 10.3390/nu14030467.
- Padilla CD. Newborn screening in the Philippines. Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:87-8.
- Harris-Haman P, Brown L, Massey S, Ramamoorthy S. Implications of Maple Syrup Urine Disease in Newborns. Nurs Womens Health. 2017 Jun-Jul;21(3):196-206. doi: 10.1016/j.nwh.2017.04.009.
- Newborn Screening Reference Center. Prevalence of disorders among Filipino newborns. 2020. Available from: http://www.newbornscreening.ph/images/stories/ResourcesPrevalence/prevalence-2020.pdf
- de Castro MJ, Sanchez-Pintos P, Abdelaziz-Salem N, Leis R, Couce ML. Evaluation of Body Composition, Physical Activity, and Food Intake in Patients with Inborn Errors of Intermediary Metabolism. Nutrients. 2021 Jun 20;13(6):2111. doi: 10.3390/nu13062111.
- Boyer SW, Barclay LJ, Burrage LC. Inherited Metabolic Disorders: Aspects of Chronic Nutrition Management. Nutr Clin Pract. 2015 Aug;30(4):502-10. doi: 10.1177/0884533615586201. Epub 2015 Jun 16.
- Evans M, Truby H, Boneh A. The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism. J Pediatr. 2017 Sep;188:163-172. doi: 10.1016/j.jpeds.2017.05.048. Epub 2017 Jun 17.
- Newborn Screening Reference Center. Expanded Newborn Screening in the Communities: Facilitator's Guidebook. Manila: Newborn Screening Reference Center, National Institutes of Health, University of the Philippines Manila; 2021.
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- Zschocke J. Inherited disorders of intermediary metabolism - a group-based approach. Med Genet. 2021 May 14;33(1):21-27. doi: 10.1515/medgen-2021-2053. eCollection 2021 Apr.
- Ballikaya E, Yildiz Y, Koc N, Tokatli A, Uzamis Tekcicek M, Sivri HS. Oral health status of children and young adults with maple syrup urine disease in Turkey. BMC Oral Health. 2021 Jan 6;21(1):8. doi: 10.1186/s12903-020-01376-0.
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- Camp KM, Lloyd-Puryear MA, Huntington KL. Nutritional treatment for inborn errors of metabolism: indications, regulations, and availability of medical foods and dietary supplements using phenylketonuria as an example. Mol Genet Metab. 2012 Sep;107(1-2):3-9. doi: 10.1016/j.ymgme.2012.07.005. Epub 2012 Jul 16.
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