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GENATLAS PHENOTYPE

last update : 18/07/2006

Symbol	KYNU
Location	2p14-q22.3
Name	hydroxykynureninuria / kynureninase deficiency
Corresponding gene	KYNU
Main clinical features	excretion excessive of xanthurenic acid, kynurenic acid, 3-hydroxykynurenine, and kynurenine after tryptophan loading, temporarily corrected by large doses of vitamin B6 . muscular hypertonia, psychomotor retardation, stereotyped gestures, congenital deafness, and nonprogressive encephalopathy, episodes of sudden worsening occurred spontaneously or during viral illnesses
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

Gene product

Name	kynureninase