Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.

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Christensen M, Duno M, Lund AM, Skovby F, Christensen E

Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.

J Inherit Metab Dis. 2007 Apr;30(2):248-55. Epub 2007 Mar 1.

PubMed ID
17334708 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Drug Targets
DrugTargetKindOrganismPharmacological ActionActions
AlanineKynureninaseProteinHumans
Unknown
Not AvailableDetails
Polypeptides
NameUniProt ID
KynureninaseQ16719Details