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J Inherit Metab Dis. 2007 Apr;30(2):248-55. Epub 2007 Mar 1.

Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.

Author information

  • 1Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK-2100, Copenhagen, Denmark. mette.christensen@rh.regionh.dk

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.

PMID:
17334708
[PubMed - indexed for MEDLINE]
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