Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase

N Engl J Med. 1997 Oct 23;337(17):1203-7. doi: 10.1056/NEJM199710233371704.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child
  • Citrate (si)-Synthase / metabolism
  • Coma / etiology
  • Fasting / metabolism*
  • Humans
  • Hydroxy Acids / blood
  • Hydroxymethylglutaryl-CoA Synthase / deficiency*
  • Hydroxymethylglutaryl-CoA Synthase / metabolism
  • Hypoglycemia / etiology
  • Ketone Bodies / biosynthesis*
  • Ketones / blood
  • Liver / enzymology*
  • Male
  • Mitochondria, Liver / enzymology*
  • Reference Values

Substances

  • Hydroxy Acids
  • Ketone Bodies
  • Ketones
  • Citrate (si)-Synthase
  • Hydroxymethylglutaryl-CoA Synthase