Synonyms: Kynureninase deficiency | Xanthurenic aciduria
A rare genetic disorder of tryptophan metabolism characterized by massive urinary excretion of xanthurenic acid (XA) 3-hydroxykynurenine and kynurenine and increased XA concentration in plasma. The clinical phenotype is highly variable ranging from asymptomatic or mild cases presentating with jaundice and vomiting with subsequent normal development and growth to more severe cases with manifestions which include intellectual disability cerebellar ataxia pellagra progressive encephalopathy with muscular hypotonia global developmental delay stereotyped gestures and/or congenital deafness.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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