Cognitive Development in Children with Inborn Errors of Urea Synthesis

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Abstract
Children with congenital urea cycle disorders are at a high risk for cerebral damage, mental retardation and other developmental disabilities. Intellectual outcome appears to be correlated with the severity of the underlying cerebral damage and the duration of hyperammonemic coma. Thus, if a good outcome is to Le possible, early diagnosis and treatment is essential. However, even prospective treatment of affected children may not prevent cognitive impairment and even asymptomatic hyperammonemia may have subtle effects on intellect.