" /> Argininosuccinic aciduria - CISMeF





ICD-11 code : 5C50.A0;

Preferred Label : Argininosuccinic aciduria;

ICD-11 definition : Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate 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 behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders.;

ICD-11 synonym : Argininosuccinate lyase deficiency; Argininosuccinase deficiency;

ICD-11 inclusion : metabolic disorder of arginosuccinic acid; argininosuccinic acidaemia;

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Arginosuccinicaciduria is an autosomal recessive inherited deficiency of arginosuccinate 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 behavioral disorders. Onset can also occur later with hyperammonemic coma or behavioral disorders that simulate psychiatric disorders.

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03/05/2025


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