3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children

J Pediatr. 1998 Mar;132(3 Pt 1):519-23. doi: 10.1016/s0022-3476(98)70032-0.

Abstract

Isolated 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency was documented in four adult women from the Amish/Mennonite population of Lancaster County, Pennsylvania. Metabolic and enzymatic investigations in these individuals were instituted after the detection of abnormal acylcarnitine profiles in blood spots obtained from their newborn children, in whom MCC activity was normal.

MeSH terms

  • Adult
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Carbon-Carbon Ligases / blood
  • Carbon-Carbon Ligases / deficiency*
  • Carnitine / blood
  • Child, Preschool
  • Christianity
  • Female
  • Humans
  • Infant, Newborn
  • Leucine / metabolism*
  • Mothers
  • Pennsylvania
  • Spectrometry, Mass, Fast Atom Bombardment

Substances

  • Carbon-Carbon Ligases
  • methylcrotonoyl-CoA carboxylase
  • Leucine
  • Carnitine