Hydroxykynureninuria
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 April 2024
Newly diagnosed with
Hydroxykynureninuria?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Clinical Trials
For a list of clinical trials in this disease area, please click here.