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Article

A novel stop codon mutation (X465Y) in the argininosuccinate lyase gene in a patient with argininosuccinic aciduria.

The Tohoku journal of experimental medicine - 1 Oct 2002

Tanaka Toju, Nagao Masayoshi, Mori Toshihiko, Tsutsumi Hiroyuki

Abstract excerpt

Argininosuccinate lyase (ASL) deficiency (McKusick 207900) is a rare autosomal recessive disorder affecting the urea cycle. The cardinal symptom in the neonatal form is progressive hyperammonemia, which is often life-threatening. However, clinical symptoms in the late onset form are quite heterogeneous. As well as measurement of ASL activity, analysis of the ASL gene is necessary to clarify the genetic basis of...

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Identifiers

PMID: 12512996
DOI: 10.1620/tjem.198.119

Genes

ASL

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