Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency

J Inherit Metab Dis. 2005;28(2):235-6. doi: 10.1007/s10545-005-7497-6.

Abstract

We report a new patient with acetoacetyl-CoA thiolase deficiency in whom we found two new missense mutations.

Publication types

  • Case Reports

MeSH terms

  • Acetyl-CoA C-Acetyltransferase / deficiency
  • Acetyl-CoA C-Acetyltransferase / genetics*
  • Child, Preschool
  • Genotype
  • Humans
  • Infant
  • Male
  • Metabolism, Inborn Errors / genetics*
  • Metabolism, Inborn Errors / metabolism
  • Mitochondria / enzymology*
  • Mutation, Missense*

Substances

  • Acetyl-CoA C-Acetyltransferase