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Possible deleterious effect of L ‐carnitine supplementation in a patient with mild multiple acyl‐CoA dehydrogenation deficiency (ethylmalonic‐adipic aciduria)
Author(s) -
Green A.,
Preece M. A.,
Sousa C.,
Pollitt R. J.
Publication year - 1991
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799937
Subject(s) - carnitine , dehydrogenation , acyl coa dehydrogenase , beta oxidation , medicine , adipic acid , acyl coa , biochemistry , endocrinology , chemistry , dehydrogenase , enzyme , organic chemistry , catalysis
Summary 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.