XANTHINURIA TYPE II

Question 1

What is  XANTHINURIA TYPE II?

Accepted Answer

rare
autosomal recessive
2 types:
- Type I Xanthine oxidoreductasen (OMIM 378300)
- Type II Xanthine oxidoreductase and aldehyde oxidase (OMIM 603592)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Xanthinurie Typ II; Kombinierter Xanthin-Dehydrogenase- und Aldehydoxydase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 603592

Question 4

Which enzymes are involved?

Accepted Answer

Xanthine dehydrogenase/oxidase

Disease	XANTHINURIA TYPE II
Synonym	XANTHINE DEHYDROGENASE AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF
OMIM	603592 OMIM = Online Mendelian Inheritance of Men
Orphanet	93602
Protein (UniProt)	Xanthine dehydrogenase/oxidase
ExPASy	1.17.1.4
Gene locus	18q12.2
ICD	E79.8
Summary	rare autosomal recessive 2 types: - Type I Xanthine oxidoreductasen (OMIM 378300) - Type II Xanthine oxidoreductase and aldehyde oxidase (OMIM 603592)
Laboratory findings	Hypoxanthine inc (plasma) Hypoxanthine inc (urine) Uric acid dec (urine) Uric acid dec (plasma) Xanthine inc (plasma) Xanthine inc (urine)
Symptoms	renal failure, acute hair, abnormal (thin, brittle, fine) hydronephrosis infections (urinary tract) mental retardation myopathy nephrocalcinosis no clinical symptoms (probably) onset, adolescent onset, childhood onset, fetus onset, infancy onset, neonatal onset, variable age renal cysts Teeth: generalized defect or abnormalities urolithiasis, nephrolithiasis, kidney stones