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Article

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.

Human mutation - 1 Jan 2014

Balmer Cécile, Pandey Amit V, Rüfenacht Véronique, Nuoffer Jean-Marc, Fang Ping, Wong Lee-Jun, Häberle Johannes

Abstract excerpt

Argininosuccinate lyase deficiency (ASLD) is caused by a defect of the urea cycle enzyme argininosuccinate lyase (ASL) encoded by the ASL gene. Patients often present early after birth with hyperammonemia but can also manifest outside the neonatal period mainly triggered by excessive protein catabolism. Clinical courses comprise asymptomatic individuals who only excrete the biochemical marker, argininosuccinic...

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Identifiers

PMID: 24166829
DOI: 10.1002/humu.22469

Genes

ASL

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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