Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase
- 1 March 2007
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 30 (2) , 248-255
Abstract
Massive urinary excretion of xanthurenic acid, 3‐hydroxykynurenine and kynurenine, known as xanthurenic aciduria or hydroxykynureninuria, in a young Somali boy suggested kynureninase deficiency. Mutation analysis of KYNU encoding kynureninase of the index case revealed homozygosity for a c.593 A > G substitution leading to a threonine‐to‐alanine (T198A) shift. A younger brother was found to have a similar excretion pattern and the same genotype. At present, neither of the two boys has symptoms of niacin deficiency. This is the first report linking xanthurenic aciduria to a mutation in the gene encoding kynureninase.Keywords
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