Abstract
Very long chain fatty acids are increased in peroxisomal disorders. We have measured the Acyl CoA content, total and peroxisomal B-oxidation (TB-OX & PB-OX), and pyruvate dehydrogenase activity (PDH) in fibroblasts from a patient (P) with neonatal adrenoleukodystrophy and controls (C). CoA content was determined after perchloric acid extraction by a fluorometric enzymatic cycling method. Total CoA content for P, C in nmol/mg protein: Acyl CoA 0.129 ± 0.069, 0.045 ± 0.007, p 0.02; acetyl CoA 0.258 ± 0.077, 0.115 ± 0.04, p<0.01; CoASH 0.003; 0.048. PB-OX was measured in the presence of rotenone and antimycin a. TB-OX in nmol/mg/min (PB-OX, % of TB-OX); P, C 0.198 ± 0.042 (39%), 0.184 ± 0.043 (47%) and PDH in nmol/mg/min; P, C 0.11 ± 0.02, 0.24 ± 0.01, P < 0.004. The increase in acyl CoA and acetyl CoA/CoASH ratio in P may result in decreased mitochondrial PDH activity. P also exhibits clinical evidence of mitochondrial dysfunction characterized by carnitine deficiency. Therefore, the defects in lipid metabolism caused by the peroxisomal disorder of P may contribute to secondary mitochondrial disorders documented clinically and biochemically.
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Holmes, R., Moore, K., Kiechle, F. et al. 152 ACYL CoA CONTENT IN A PATIENT WIH A PEROXISOMAL DISORDER AND MITOCHONDRIAL DYSFUNCTION. Pediatr Res 30, 653 (1991). https://doi.org/10.1203/00006450-199112000-00182
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DOI: https://doi.org/10.1203/00006450-199112000-00182