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Summary
XANTHINURIA TYPE I
XANTHINURIA XANTHINE OXIDASE DEFICIENCY
278300
OMIM = Online Medalian Inheritance of Men
93601
2p23.1
  • avoidance of specific drugs
  • extracorporeal shock-wave lithotripsy
  • high fluid intake
  • lithotomy
  • low-purine diet
rare (1:45.000)
autosomal recessive
2 types:
- Type I Xanthine oxidoreductase
- Type II Xanthine oxidoreductase and aldehyde oxidase
symptoms
arthralgia
arthritis
hematuria
infections (urinary tract)
irritability
myopathy
no clinical signs or symptoms
onset, adolescent
onset, adulthood
onset, childhood
pain, abdominal
renal failure, acute/chronic
urolithiasis
laboratory finding
Uric acid0.001.000.605.50mg/dlserum
Xanthine1.003.00 mmol/24hurineno data
Uric acid 820.001026.00decreasedurine
Hypoxanthine0.000.00 increasedurineno data
Literature
Morava Eet al.Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndromeEur J Pediatr1630457-4712004
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sengers RCet al.Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exerciseJ Pediatr860873-8801975