A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.
Palmitoyl-CoA dehydrogenase activity in skin fibroblasts from seven patients with unidentified defects of fatty acid oxidation was measured in the presence and absence of antibodies against medium-chain, long-chain, and very-long-chain acyl-CoA dehydrogenases (VLCAD). Two of the patients, 4-5 month old boys, were found to have a novel disease, VLCAD deficiency, as judged from the results of very low palmitoyl-CoA dehydrogenase activity and the lack of immunoreactivity toward antibody raised to purified VLCAD.
Aoyama
T
T
Department of Biochemistry, Shinshu University School of Medicine, Nagano, Japan.
Uchida
Y
Y
Kelley
R I
RI
Marble
M
M
Hofman
K
K
Tonsgard
J H
JH
Rhead
W J
WJ
Hashimoto
T
T
D044942:Acyl-CoA Dehydrogenase, Long-Chain / Q000172:deficiency*; D005260:Female; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology*; D008297:Male; D008928:Mitochondria / Q000201:enzymology*
D044942:Acyl-CoA Dehydrogenase, Long-Chain