XANTHINURIA TYPE I

Question 1

What is  XANTHINURIA TYPE I?

Accepted Answer

rare (1:45.000)
autosomal recessive
- 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 I; Xanthin-Dehydrogenase (XDH)-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 278300

Question 4

Which enzymes are involved?

Accepted Answer

Xanthine dehydrogenase/oxidase

Disease	XANTHINURIA TYPE I
Synonym	XANTHINURIA; XANTHINE OXIDASE DEFICIENCY
OMIM	278300 OMIM = Online Mendelian Inheritance of Men
Orphanet	93601
Protein (UniProt)	Xanthine dehydrogenase/oxidase
ExPASy	1.17.1.4
Gene locus	2p23.1
ICD	E79.8
Summary	rare (1:45.000) autosomal recessive - Type I Xanthine oxidoreductasen (OMIM 378300) - Type II Xanthine oxidoreductase and aldehyde oxidase (OMIM 603592)
Laboratory findings	Hypoxanthine inc (urine) Xanthine inc (urine) Hypoxanthine inc (plasma) Uric acid dec (serum) Uric acid dec (urine) Xanthine inc (plasma)
Symptoms	arthralgia arthritis hematuria infections (urinary tract) irritability myopathy no clinical symptoms (probably) onset, adolescent onset, adulthood onset, childhood pain, abdominal renal failure, acute/chronic urolithiasis, nephrolithiasis, kidney stones