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-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.
Green
A
A
Department of Clinical Chemistry, Children's Hospital, Ladywood Middleway, Birmingham, UK.
Preece
M A
MA
de Sousa
C
C
Pollitt
R J
RJ
D044944:Acyl-CoA Dehydrogenases / Q000172:deficiency*; D000272:Adipates / Q000652:urine*; D002331:Carnitine / Q000008:administration & dosage / Q000009:adverse effects* / Q000627:therapeutic use; D002648:Child; D006801:Humans; D007003:Hypoglycemia / Q000139:chemically induced; D008297:Male; D008314:Malonates / Q000652:urine*; D012256:Riboflavin / Q000627:therapeutic use
D000272:Adipates; D008314:Malonates; C038080:ethylmalonic acid; C029900:adipic acid; D044944:Acyl-CoA Dehydrogenases; D002331:Carnitine; D012256:Riboflavin