Neuropsychological attributes of urea cycle disorders: A systematic review of the literature

Susan E Waisbren, Arianna K Stefanatos, Teresa M Y Kok, Burcu Ozturk-Hismi, Susan E Waisbren, Arianna K Stefanatos, Teresa M Y Kok, Burcu Ozturk-Hismi

Abstract

Urea cycle disorders (UCDs) are rare inherited metabolic conditions that impair the effectiveness of the urea cycle responsible for removing excess ammonia from the body. The estimated incidence of UCDs is 1:35 000 births, or approximately 113 new patients with UCD per year. This review summarizes neuropsychological outcomes among patients with the eight UCDs in reports published since 1980. Rates of intellectual disabilities published before (and including) 2000 and after 2000 were pooled and compared for each UCD. Since diagnoses for UCDs tended to occur earlier and better treatments became more readily available after the turn of the century, this assessment will characterize the extent that current management strategies have improved neuropsychological outcomes. The pooled sample included data on cognitive abilities of 1649 individuals reported in 58 citations. A total of 556 patients (34%) functioned in the range of intellectual disabilities. The decline in the proportion of intellectual disabilities in six disorders, ranged from 7% to 41%. Results from various studies differed and the cohorts varied with respect to age at symptom onset, age at diagnosis and treatment initiation, current age, severity of the metabolic deficiency, management strategies, and ethnic origins. The proportion of cases with intellectual disabilities ranged from 9% to 65% after 2000 in the seven UCDs associated with cognitive deficits. Positive outcomes from some studies suggest that it is possible to prevent or reverse the adverse impact of UCDs on neuropsychological functioning. It is time to "raise the bar" in terms of expectations for treatment effectiveness.

Keywords: intellectual disabilities; neuropsychological outcomes; urea cycle disorders.

Conflict of interest statement

S.E. Waisbren is a consultant to Horizon, Ultragenyx and Shire on the psychological attributes of urea cycle disorders. She received no financial support for work on this manuscript. She is also a member of the Urea Cycle Disorders Consortium (UCDC; U54HD061221), which is a part of the National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN), supported through collaboration between the Office of Rare Diseases Research (ORDR), the National Center for Advancing Translational Science (NCATS) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). A.K. Stefanatos has nothing to disclose. T.M.Y. Kok is an employee of and has stock in Horizon. B. Ozturk‐Hismi received grant support from The Türkiye Bilimsel ve Teknolojik Araştirma Kurumu (TUBITAK‐1059B191601447).

© 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

Figures

Figure 1
Figure 1
The urea cycle. Abbreviations: ARG1, arginase 1; ASL, argininosuccinate lyase; ASS, argininosuccinate synthetase; CPSI, carbamoyl phosphate synthetase 1; NAGS, N‐acetylglutamate synthase; OTC, ornithine transcarbamylase; ORNT1, mitochondrial ornithine transporter 1
Figure 2
Figure 2
The rates of intellectual disabilities ≤2000 and >2000 for individual UCDs, proximal and distal UCDs and overall UCDs. P values for odds ratios for intellectual deficiencies >2000 compared to ≤2000 were calculated with the Fisher's exact test. *P < .05; **P < .01; ***P < .001; ****P < .0001; n.s., not significant. ǂData are only available after the year 2000 for Citrin deficiency. Abbreviations: ARGD, arginase deficiency; ASLD, argininosuccinate lyase deficiency; ASSD, argininosuccinate synthetase deficiency; CPS1D, carbamoyl phosphate synthetase 1 deficiency; HHH, hyperornithinemia‐hyperammonemia‐homocitrullinuria; NAGSD, N‐acetylglutamate synthase deficiency; OTCD, ornithine transcarbamylase deficiency

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