ArticleJournal of inherited metabolic disease2005
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria.
Article in Journal of inherited metabolic disease, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 18 citations in OpenAlex.
- Clinical, biochemical and genetic characteristics of patients with argininosuccinate lyase deficiency from a single center cohort in China.Orphanet journal of rare diseases · 2025Article
- Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.JCI insight · 2020Article
- Argininosuccinate lyase deficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Review
- Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.Journal of inherited metabolic disease · 2012Article
- Novel mutations underlying argininosuccinic aciduria in Saudi Arabia.BMC research notes · 2010Article
- Newborn screening: experiences in the Middle East and North Africa.Journal of inherited metabolic disease · 2007Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
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Abstract
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 analysed by direct sequencing. A further 28 patients with a confirmed diagnosis of ASAuria based on MS/MS of their DBS were tested by sequencing for the presence of the Q354X mutation. This mutation was found in 14 out of the 28 patients (50%) tested. Our work indicates that the Q354X allele is common, may account for 50% of the abnormal ASL genes in the Saudi population, and is likely to be associated with the neonatal form of the disease. We recommend that all patients diagnosed with ASAuria in Saudi Arabia or of Arab origin be tested for this mutation and for Q116X, which has been described previously. In addition, further analysis is needed to identify other underlying disease mutations for ASAuria in the Saudi population.
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