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Article

Argininosuccinic aciduria: clinical and biochemical phenotype findings in Malaysian children.

The Malaysian journal of pathology - 1 Dec 2010

Chen Bee Chin, Ngu Lock Hock, Zabedah Md Yunus

Abstract excerpt

Argininosuccinic aciduria is an inborn error of the urea cycle caused by deficiency of argininosuccinate lyase (ASL). ASL-deficient patients present with progressive intoxication due to accumulation of ammonia in the body. Early diagnosis and treatment of hyperammonemia are necessary to improve survival and prevent long-term handicap. Two clinical phenotypes have been recognized--neonatal acute and milder...

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Identifiers

PMID: 21329179

Genes

ASL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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