ICD-11 classes
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
5C90 — Metabolic or transporter liver disease
5C90.0 — Liver diseases due to urea cycle defects
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:
- Disorders of urea cycle metabolism #4741
- Liver diseases due to urea cycle defects #14402
- Genetic disorders of amino acid metabolism or transport affecting the skin #15906
- Genetic syndromes with alopecia or hypotrichosis #15975
- Genetic disorders of amino acid metabolism or transport affecting the skin #16070
- Genetic syndromes with alopecia or hypotrichosis #16341