Argininosuccinic aciduria (Q40015)

Argininosuccinic aciduria is an autosomal recessive inherited deficiency of argininosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioural disorders. Onset can also occur later with hyperammonemic coma or behavioural disorders that simulate psychiatric disorders.