Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria)

J Inherit Metab Dis. 1991;14(5):691-7. doi: 10.1007/BF01799937.

Abstract

A patient with riboflavin-responsive mild multiple acyl-CoA dehydrogenation deficiency of the ethylmalonic--adipic aciduria type experienced a recurrence of spontaneous hypoglycaemic episodes whilst being given supplementary L-carnitine. This phenomenon is explicable in terms of the known biochemical features of this condition and suggests caution in the carnitine supplementation of patients with defective oxidation of medium- or short-chain fatty acyl-CoA esters. This patient excreted excessive phenylpropionylglycine after an oral phenylpropionic acid load. Thus the phenylpropionic acid loading test is not completely specific for primary medium-chain acyl-CoA dehydrogenase deficiency as has been supposed.

Publication types

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

MeSH terms

  • Acyl-CoA Dehydrogenases / deficiency*
  • Adipates / urine*
  • Carnitine / administration & dosage
  • Carnitine / adverse effects*
  • Carnitine / therapeutic use
  • Child
  • Humans
  • Hypoglycemia / chemically induced
  • Male
  • Malonates / urine*
  • Riboflavin / therapeutic use

Substances

  • Adipates
  • Malonates
  • ethylmalonic acid
  • adipic acid
  • Acyl-CoA Dehydrogenases
  • Carnitine
  • Riboflavin