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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
- Type I Xanthine oxidoreductasen (OMIM 378300)
- Type II Xanthine oxidoreductase and aldehyde oxidase (OMIM 603592)
symptoms
arthralgia
arthritis
hematuria
infections (urinary tract)
irritability
myopathy
no consistent clinical signs or symptoms
onset, adolescent
onset, adulthood
onset, childhood
pain, abdominal
renal failure, acute/chronic
urolithiasis, kidney stones
laboratory finding
Uric acid0.001.00100.00350.00mg/dlserumChildhood
Xanthine1.003.00 mmol/mol creatinineurine
Uric acid 820.001026.00mmol/mol creatinineurine
Hypoxanthine increasedplasma
Hypoxanthine mmol/mol creatinineurine
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