1.
Science
; 221(4605): 73-5, 1983 Jul 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-6857268
RESUMO
Dicarboxylic aciduria, an inborn error of metabolism in man, is thought to be caused by defective beta-oxidation of six-carbon to ten-carbon fatty acids. Oxidation of [1-14C]octanoate was impaired in intact fibroblasts from three unrelated patients with dicarboxylic aciduria (19 percent of control), as was the activity of medium-chain (octanoyl-)acyl-CoA dehydrogenase in the supernatants of sonicated fibroblast mitochondria (5 percent of control). These data confirm that dicarboxylic aciduria is caused by an enzyme defect in the beta-oxidation cycle.