A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 1993 Mar 31;191(3):1369-72
Date
03/31/1993Pubmed ID
8466512DOI
10.1006/bbrc.1993.1368Scopus ID
2-s2.0-0027295763 (requires institutional sign-in at Scopus site) 151 CitationsAbstract
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.
Author List
Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman K, Tonsgard JH, Rhead WJ, Hashimoto TAuthor
William Rhead MD, PhD Adjunct Professor in the Pediatrics department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Acyl-CoA Dehydrogenase, Long-ChainFemale
Humans
Lipid Metabolism, Inborn Errors
Male
Mitochondria
