Abstract
A female patient came to our hospital at the age of 2 8/12 years with the clinical symptoms (vomitimg, diarrhea, hypoglycemia and subcoma) and urinary excretion pattern (C6-monocarboxylic + C6 -C10 dicarboxylic acids and their glycineconjugates and phenylpropionylglycine) typical for hypoketotic hypoglycemic dicarboxylic aciduria. A muscle biopsy was taken. In the muscle homogenate total carnitine was decreased to 10% of the average controls, but carnitine palmitoyltransferase I and II and palmitoyl-CoA synthetase were normal. In isolated mitochondria the respiratory rates of FAD- and NAD+ -dependent substrates were reduced to 33-47% of controls. Oxidation of ascorbate was 78%. The oxidation of (U-14 C)-palmitate in the presence of 0.5 mM carnitine was 50% of normal. It normalized in the presence of 5 mM L-carnitine and CoA. Using hexanoyl-CoA as substrate and PMS + DCIP as electron-acceptors the medium-chain acyl-CoA dehydrogenase activity in freeze-thawed mitochondria was 0.67 nmol/mg protein/min (for 6 controls: 3.32 ± 0.15 nmol/mg protein/min; mean ± SEM). Clinically the patient is in a good condition.
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Huijmans, J., Scholte, H., Blom, W. et al. Enzymatic evidence for a medium-chain acyl-CoA dehydrogenase deficiency in muscle of a patient with hypoketotic hypoglycemic dicarboxylic aciduria. Pediatr Res 18, 798 (1984). https://doi.org/10.1203/00006450-198408000-00039
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DOI: https://doi.org/10.1203/00006450-198408000-00039
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