, Volume 30, Issue 2, pp 248-255
Date: 01 Mar 2007

Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase

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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.

Communicating editor: Marinus Duran
Competing interests: None declared
References to electronic databases: OMIM 236800/605197; EC 3.7.1.3.
Part of this paper has previously been reported as a poster presentation at SSIEM 41st Annual Symposium in Amsterdam (2004) and published as an abstract in J Inherit Metab Dis 2004; 27(Suppl. 1): 62.