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Article

Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.

Journal of inherited metabolic disease - 1 Jan 2005

Al-Sayed M, Alahmed S, Alsmadi O, Khalil H, Rashed M S, Imtiaz F, Meyer B F

Abstract excerpt

We have identified a common novel mutation (Q354X) in the argininosuccinate lyase (ASL) gene in Saudi patients with argininosuccinic aciduria (ASAuria; McKusick 207900). The two index patients were siblings, had a neonatal onset of the disease and were diagnosed based on the clinical presentation and confirmed by analysis of their dried blood spots (DBS) by tandem mass spectrometry (MS/MS). The ASL gene was then...

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Source

Identifiers

PMID: 16435180
DOI: 10.1007/s10545-005-0081-2

Genes

ASL

Provenance

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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