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GTR Home > Conditions/Phenotypes > Hydroxykynureninuria

Hydroxykynureninuria

Synonyms
Encephalopathy due to hydroxykynureninuria; Kynureninase deficiency; Xanthurenic aciduria
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Hydroxykynureninuria, also known as xanthurenicaciduria, is an autosomal recessive condition characterized by high urinary excretion of kynurenine (KYN), xanthurenic acid (XA) and 3-hydroxykynurenine (3-OHKYN), with no detectable anthranilic acid (AA) or 3-hydroxyanthranilic acid (3-OHAA) (Christensen et al., 2007). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KYNUU, VCRL2, KYNU
    Summary: kynureninase

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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