Argininaemia (Q40017): Difference between revisions
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13 August 2026
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Revision as of 05:39, 13 August 2026
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterised clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C50.A2 |
||
| English | Argininaemia |
Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterised clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment. |
Statements
CID11:5C50.A2
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dki-india-5C50.A2
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Concluído
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13 August 2026
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