The diagnosis of mitochondrial HMG-CoA synthase deficiency

J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854.

Abstract

Deficiency of 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase, the only disorder exclusively affecting hepatic ketogenesis, is a cause of hypoglycemic coma. We report that the diagnosis can be made by typical laboratory findings (hypoketosis, elevated free fatty acids, normal acylcarnitines, specific urinary organic acids) during acute episodes.

Publication types

  • Case Reports

MeSH terms

  • Coenzyme A Ligases / deficiency*
  • DNA Mutational Analysis
  • Fasting / metabolism
  • Female
  • Humans
  • Hydroxymethylglutaryl-CoA Synthase
  • Hypoglycemia / enzymology
  • Infant
  • Metabolism, Inborn Errors / diagnosis*
  • Mitochondria, Liver / enzymology*
  • Molecular Conformation

Substances

  • Hydroxymethylglutaryl-CoA Synthase
  • Coenzyme A Ligases

Associated data

  • OMIM/600234