Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor

J Inherit Metab Dis. 1996;19(5):700-1. doi: 10.1007/BF01799850.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Coenzymes*
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Hypoxanthine / urine
  • Infant
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / metabolism
  • Metalloproteins / metabolism*
  • Molybdenum / metabolism
  • Molybdenum Cofactors
  • Nervous System Diseases / genetics
  • Nervous System Diseases / metabolism
  • Oxidoreductases Acting on Sulfur Group Donors / deficiency*
  • Pteridines / metabolism*
  • Uric Acid / blood
  • Uric Acid / urine
  • Xanthine
  • Xanthine Oxidase / deficiency*
  • Xanthines / urine

Substances

  • Coenzymes
  • Metalloproteins
  • Molybdenum Cofactors
  • Pteridines
  • Xanthines
  • Xanthine
  • Uric Acid
  • Hypoxanthine
  • Molybdenum
  • molybdenum cofactor
  • Xanthine Oxidase
  • Oxidoreductases Acting on Sulfur Group Donors