Abstract
A patient with dysmyelination is described. Lactate levels were elevated in serum, urine, and cerebrospinal fluid. A decreased pyruvate oxidation rate due to a pyruvate dehydrogenase complex deficiency was demonstrated in muscle and cultured fibroblasts. In muscle mitochondria no structural abnormalities were seen. The clinical course was progressive and the patient died at the age of 6 months.
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Sengers, R.C.A., Trijbels, J.M.F., Bakkeren, J.A.J.M. et al. Dysmyelination and disturbed metabolism of pyruvate: a case report. Eur J Pediatr 140, 127–130 (1983). https://doi.org/10.1007/BF00441661
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DOI: https://doi.org/10.1007/BF00441661