Treatment of two children with hereditary tyrosinaemia type I and long-standing renal disease with a 4-hydroxyphenylpyruvate dioxygenase inhibitor (NTBC)

J Inherit Metab Dis. 1996;19(2):234-8. doi: 10.1007/BF01799438.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 4-Hydroxyphenylpyruvate Dioxygenase / antagonists & inhibitors*
  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / drug therapy*
  • Child
  • Cyclohexanones / administration & dosage
  • Cyclohexanones / therapeutic use*
  • Enzyme Inhibitors / administration & dosage
  • Enzyme Inhibitors / therapeutic use*
  • Female
  • Humans
  • Kidney Diseases / etiology*
  • Male
  • Nitrobenzoates / administration & dosage
  • Nitrobenzoates / therapeutic use*
  • Osteoporosis / drug therapy
  • Osteoporosis / etiology
  • Phosphates / blood
  • Phosphates / urine
  • Reference Values
  • Tyrosine / blood*
  • Uric Acid / blood
  • Uric Acid / urine

Substances

  • Cyclohexanones
  • Enzyme Inhibitors
  • Nitrobenzoates
  • Phosphates
  • Uric Acid
  • Tyrosine
  • 4-Hydroxyphenylpyruvate Dioxygenase
  • nitisinone