3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: report of five new patients

J Inherit Metab Dis. 1988;11(1):76-87. doi: 10.1007/BF01800058.

Abstract

Five new patients are reported and the pathogenesis of the hypoglycaemia without ketogenesis is discussed. This report extends a recent review.

Publication types

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

MeSH terms

  • Acidosis / genetics*
  • Child
  • Child, Preschool
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Hypoglycemia / genetics*
  • Infant
  • Ketone Bodies / biosynthesis
  • Oxo-Acid-Lyases / deficiency*

Substances

  • Ketone Bodies
  • Oxo-Acid-Lyases
  • 3-hydroxy-3-methylglutaryl-coenzyme A lyase