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hydroxykynureninuria; xanthurenic aciduria; kynureninase deficiency
Epidemiology:
- rare
Pathology:
- abnormality of tryptophan metabolism
- deficiency of kynureninase
Genetics:
- autsomal recessive
- defect in KYNU (kynureninase)
Clinical manifestations:
- anemia
- diarrhea
- headache (severe, recurrent or occipital, migraine)
- hearing defect, deafness
- hepatomegaly
- splenomegaly
- mental retardation
- photophobia or photosensitive defect in light-exposed area
- stomatitis [2]
Laboratory:
- urine xanthurenate is elevated
- urine kynurenine is elevated
- urine 3-hydroxykynurenine is elevated [2]
Management:
- vitamin B6
Related
kynureninase; L-kynurenine hydrolase (KYNU)
kynurenine pathway
General
inborn error of metabolism
enzyme deficiency
References
- OMIM :accession 236800
- Metabolic and Genomic Information Center
http://www.metagene.de/program/d.prg?id_d=427