Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase
- First Online:
- 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
- 198 Downloads
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.