Demyelination and disturbed metabolism of pyruvate: a case report.
作者信息
Sengers R C, Trijbels J M, Bakkeren J A, Ruitenbeek W, Janssen A J, Stadhouders A M, ter Laak H J
出版信息
Eur J Pediatr. 1983 Apr;140(2):127-30. doi: 10.1007/BF00441661.
PMID:6411474
Abstract
A patient with demyelination 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.
摘要
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