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Summary
XANTHINURIA TYPE II
XANTHINE DEHYDROGENASE AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF
603592
OMIM = Online Medalian Inheritance of Men
93602
18q12.2
  • avoidance of specific drugs
  • high fluid intake
  • no specific treatment
rare
autosomal recessive
2 types:
- Type I Xanthine oxidoreductase
- Type II Xanthine oxidoreductase and aldehyde oxidase
symptoms
hair, abnormal (thin, brittle, fine)
hydronephrosis
infections (urinary tract)
mental retardation
myopathy
nephrocalcinosis
no clinical signs or symptoms
onset, variable age
renal cysts
renal failure, acute/chronic
Teeth: generalized defect or abnormalities
urolithiasis, kidney stones
laboratory finding
Uric acid decreasedplasma
Uric acid0.000.00 decreasedurineno data
Xanthine0.000.00 increasedurineno data
Xanthine increasedplasma
Hypoxanthine0.000.00 increasedurineno data
Literature
Dsouza RS,et al.Danon disease: clinical features, evaluation, and managementCirc Heart Fail75843-8492014
Cohen TDStreem SB, Hall PClinical effect of captopril on the formation and growth of cystine calculiJ Urol1541164-1661995
Munnich Aet al.Clinical presentations and laboratory invetstigations in respiratory chain deficiencyEur J Pediatr1550262-2741996