What is HYDROXYKYNURENINURIA?

rare autosomal recessive mutation in the KYNU gene

Gibt es eine deutsche Bezeichnung?

Kynureninase-Mangel; Xanthurenazidurie

Disease	HYDROXYKYNURENINURIA
Synonym	KYNURENINASE DEFICIENCY
OMIM	236800 OMIM = Online Mendelian Inheritance of Men
Orphanet	79155
Protein (UniProt)	Kynureninase
ExPASy	3.7.1.3
Gene locus	2q22.2
ICD	E70.8
Summary	rare autosomal recessive mutation in the KYNU gene
Laboratory findings	3-Hydroxykynurenine inc (urine) DL-Kynurenin inc (urine) Ferric chloride reaction (urine) Xanthurenic acid inc (urine)
Symptoms	headache (severe, recurrent or occipital, migraine) anemia coma diarrhea encephalopathy hearing defect, deafness hepatomegaly (large liver) hypertonia, spasticity mental retardation metabolic acidosis onset, infancy onset, neonatal photophobia or photosensitive defect in light-exposed area psychomotor retardation renal dysfunction, renal defects splenomegaly (large spleen) stomatitis tachykardia