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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
allopurinol is not converted to oxypurinol in patients with type II
symptoms
behavior, autism or autistic-like
generalized tooth defect
hair, abnormal (thin, brittle)
kidney stones
mental retardation
myopathy
nephrocalcinosis
no clinical signs or symptoms
renal cysts
renal failure, acute/chronic
laboratory finding
Uric acid decreasedplasma
Uric acid0.000.00 decreasedurineno data
Xanthine0.000.00 increasedurineno data
Xanthine increasedplasma
Hypoxanthine0.000.00 increasedurineno data
Literature
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