Ethylmalonic-Adipic Aciduria: IN VIVO AND IN VITRO STUDIES INDICATING DEFICIENCY OF ACTIVITIES OF MULTIPLE ACYL-CoA DEHYDROGENASES

AUTOR(ES)

Mantagos, Stephanos

RESUMO

The mechanisms underlying ethylmalonic-adipic aciduria were studied in a 5-yr-old girl. Oxidation of radioactive substrates by cultured skin fibroblasts from the proband and asymptomatic family members was also determined and compared to that by normal fibroblasts and that by cells from a patient with glutaric aciduria type II.

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