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
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Hydroxykynureninuria?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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