hydroxykynureninuria

An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gen

An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2.

Signs and symptoms

• Elevated urinary xanthurenic acid level
• Vomiting
• Elevated urinary 3-hydroxykynurenine level
• Jaundice

Also known as: kynureninase deficiency; xanthurenic aciduria