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Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

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.

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Abbreviations

3-OHAA:

3-hydroxyanthranilic acid

3-OHKYN:

3-hydroxykynurenine

AA:

anthranilic acid

IS:

internal standard

KYN:

kynurenine

KYNA:

kynurenic acid

XA:

xanthurenic acid

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Authors and Affiliations

  1. Department of Clinical Genetics, Rigshospitalet 4062, Blegdamsvej 9, DK-2100, Copenhagen, Denmark

    M. Christensen, M. Duno, A. M. Lund, F. Skovby & E. Christensen

Authors
  1. M. Christensen
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  2. M. Duno
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  3. A. M. Lund
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  4. F. Skovby
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  5. E. Christensen
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Corresponding author

Correspondence to M. Christensen.

Additional information

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.

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Christensen, M., Duno, M., Lund, A.M. et al. Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase. J Inherit Metab Dis 30, 248–255 (2007). https://doi.org/10.1007/s10545-007-0396-2

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  • DOI: https://doi.org/10.1007/s10545-007-0396-2

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