ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C50 — Inborn errors of amino acid or other organic acid metabolism
5C50.A — Disorders of urea cycle metabolism
5C50.A0 — Argininosuccinic aciduria

ICD-11 5C50.A0 — Argininosuccinic aciduria

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 behavioural disorders. Onset can also occur later with hyperammonemic coma or behavioural disorders that simulate psychiatric disorders.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.

The diagnosis is coded elsewhere:

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