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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.