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
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- M. Duno
- Department of Clinical Genetics Rigshospitalet 4062 Blegdamsvej 9 Copenhagen DK‐2100 Denmark
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- A. M. Lund
- Department of Clinical Genetics Rigshospitalet 4062 Blegdamsvej 9 Copenhagen DK‐2100 Denmark
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- F. Skovby
- Department of Clinical Genetics Rigshospitalet 4062 Blegdamsvej 9 Copenhagen DK‐2100 Denmark
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- E. Christensen
- Department of Clinical Genetics Rigshospitalet 4062 Blegdamsvej 9 Copenhagen DK‐2100 Denmark
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説明
<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>
収録刊行物
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- Journal of Inherited Metabolic Disease
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Journal of Inherited Metabolic Disease 30 (2), 248-255, 2007-03
Wiley
