Journal of Inherited Metabolic Disease

, Volume 30, Issue 2, pp 248–255

Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase

Authors

    • Department of Clinical GeneticsRigshospitalet 4062
  • M. Duno
    • Department of Clinical GeneticsRigshospitalet 4062
  • A. M. Lund
    • Department of Clinical GeneticsRigshospitalet 4062
  • F. Skovby
    • Department of Clinical GeneticsRigshospitalet 4062
  • E. Christensen
    • Department of Clinical GeneticsRigshospitalet 4062
Original Article

DOI: 10.1007/s10545-007-0396-2

Cite this article as:
Christensen, M., Duno, M., Lund, A.M. et al. J Inherit Metab Dis (2007) 30: 248. doi:10.1007/s10545-007-0396-2

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.

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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© SSIEM and Springer 2007