Abstract
Fibroblasts from neonate I with metabolic acidosis and ethylmalonate excretion oxidized [1-14C] butyrate, -octanoate and -palmitate at 35% (p<0.05), 60% and 63% of control; succinate oxidation was normal. Fibroblasts incorporated 14C from [1-14C]-butyrate, -octanoate and -succinate into TCA insoluble material at 38% (p<0.05), 57% and 73% of controls. SCADH activity in fibroblast mitochondrial supernatants (MS) of neonate I was 39%, while medium chain (MCADH) and long chain (LCADH) acyl-CoA dehydrogenase (ADH) activities were 56% and 75% of control. Acetoacetyl-CoA, a SCADH inhibitor, inhibited control MS SCADH activity by 47%, while no inhibition was detected in neonate I. MS electron-transferring flavoprotein activity was 70% of control (p=0.36). Fibroblast sonicate (CS) SCADH and MCADH activities were 47% and 72% of control. Neonate II presented with severe metabolic acidosis, hyperammonemia, death and ethyl-malonate, butyrate, adipate and lactate excretion. Dr. Vivian Shih found that this patient's fibroblasts oxidized 14C-octanoate and -leucine normally, and [1-14C]butyrate at 56% of control. CS SCADH and MCADH activities in neonate II were 58% and 97% of control by a dye reduction method and 53% and 95% of control using the tritium release assay. Neonate I may be a double heterozygote for both SCADH and MCADH deficiencies or possess a mutant MCADH with reduced activity toward octanoyl-CoA and no activity towards butyryl-CoA; neonate II has an isolated SCADH deficiency.
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Amendt, B., Norbeck, B., Moon, A. et al. 1189 A NEW DEFECT OF β-OXIDATION: SHORT CHAIN ACYL-COA DEHYDROGENASE (SCADH) DEFICIENCY. Pediatr Res 19, 309 (1985). https://doi.org/10.1203/00006450-198504000-01219
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DOI: https://doi.org/10.1203/00006450-198504000-01219
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