Histological changes of muscle in a patient with pyruvate dehydrogenase deficiency |
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Authors: | K Toshima Y Kuroda M Miyao T Suehiro K Kusaka |
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Affiliation: | 1. Department of Pediatrics, School of Medicine, Tokushima University, Tokushima;2. First Department of Internal Medicine, School of Medicine, Tokushima University, Tokushima |
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Abstract: | Histological changes of muscle from a 17-month-old boy with pyruvate dehydrogenase deficiency are presented. The patient had muscle hypotonia, mental retardation, seizures, lactic acidosis and hyperalaninemia. Deficient activity of the pyruvate dehydrogenase complex was found in his platelets (about 25% of normal) and of pyruvate dehydrogenase in his biopsied muscle (about 5% of normal). A muscle biopsy specimen showed an increased proportion of type IIC fibers (24%), fiber-type grouping and lipid droplet accumulation. |
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Keywords: | Muscle fiber differentiation pyruvate dehydrogenase deficiency type IIC fiber |
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