Xanthurenic aciduria due to a mutation in <i>KYNU</i> encoding kynureninase

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  • M. Christensen
    Department of Clinical Genetics Rigshospitalet 4062 Blegdamsvej 9 Copenhagen DK‐2100 Denmark
  • M. Duno
    Department of Clinical Genetics Rigshospitalet 4062 Blegdamsvej 9 Copenhagen DK‐2100 Denmark
  • A. M. Lund
    Department of Clinical Genetics Rigshospitalet 4062 Blegdamsvej 9 Copenhagen DK‐2100 Denmark
  • F. Skovby
    Department of Clinical Genetics Rigshospitalet 4062 Blegdamsvej 9 Copenhagen DK‐2100 Denmark
  • E. Christensen
    Department of Clinical Genetics Rigshospitalet 4062 Blegdamsvej 9 Copenhagen DK‐2100 Denmark

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<jats:title>Abstract</jats:title><jats:p>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 <jats:italic>KYNU</jats:italic> 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.</jats:p>

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