POSSIBLE DELETERIOUS EFFECT OF L-CARNITINE SUPPLEMENTATION IN A PATIENT WITH MILD MULTIPLE ACYL-COA DEHYDROGENATION DEFICIENCY (ETHYLMALONIC-ADIPIC ACIDURIA)

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-cartinine. 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.