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Summary
HYDROXYKYNURENINURIA
KYNURENINASE DEFICIENCY
236800
OMIM = Online Medalian Inheritance of Men
79155
2q22.2
  • Vitamin B6 (pyridoxine)
rare
autosomal recessive
symptoms
anemia
coma
diarrhea
encephalopathy
headache (severe, recurrent or occipital, migraine)
hearing defect, deafness
hepatomegaly (large liver)
mental retardation
photophobia or photosensitive defect in light-exposed area
renal dysfunction, renal defects
splenomegaly (large spleen)
stomatitis
laboratory finding
3-Hydroxykynurenine2.0010.00 increasedurinechild
Kynurenine0.000.00 increasedurineno data
Ferric chloride reaction0.000.00 positiveurinechild
Xanthurenic acid0.000.00 increasedurinechild
Literature
Hofmann Set al.Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene productHum Mol Genet12162003-20122003
Kondo Tet al.Is 2-propyl-4-pentenoic acid, a hepatotoxic metabolite of valproate, reasonable for valproate-induced hyperammonemia?Epilepsia333550-5541992
Phornphutkul Cet al.Natural history of alkaptonuriaN Engl J Med34702111-21212002
Domenech Eet al.Study of the WFS1 gene and mitochondrial DNA in Spanish Wolfram syndrome familiesClin Genet566463-4692004