Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I

J Inherit Metab Dis. 2005;28(1):103-6. doi: 10.1007/s10545-005-5085-4.

Abstract

We report the case of a child who developed severe obstructive hypertrophic cardiomyopathy revealing hereditary tyrosinaemia type I, who was successfully treated with NTBC. The mechanisms underlying the association are discussed.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / drug therapy
  • Cardiomyopathy, Hypertrophic / therapy*
  • Cyclohexanones / pharmacology*
  • Echocardiography
  • Enzyme Inhibitors / pharmacology
  • Humans
  • Hypertrophy, Left Ventricular
  • Infant
  • Male
  • Nitrobenzoates / pharmacology*
  • Tyrosine / blood
  • Tyrosinemias / drug therapy*

Substances

  • Cyclohexanones
  • Enzyme Inhibitors
  • Nitrobenzoates
  • Tyrosine
  • nitisinone