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NEUROLOGY 1985;35:1670
© 1985 American Academy of Neurology

Diagnosis of partial deficiency of the pyruvate dehydrogenase complex in biopsied muscle

Kenji Toshima, MD, Yasuhiro Kuroda, MD, Etsuo Naito, MD, Ichiro Yokota, MD, Michinori Ito, MD, Toshiyuki Watanabe, MD, Eiji Takeda, MD, Masuhide Miyao, MD and Ikuya Nonaka, MD

From the Department of Pediatrics (Drs. Toshima, Kuroda, Naito. Yokota, Ito, Watanabe. Takeda, and Miyan), University of Tokushima School of Medicine, Tokushima, Japan; and the Division of Neuromuscular Research (Dr. Nonaka), National Center for Nervous, Mental and Muscular Disorders, Tokyo, Japan.

We have measured the total activity of pyruvate dehydrogenase (PDH) complex, by in vitro activation with a broad specificity protein phosphatase, and the basal activity, supposed to be present in vivo, in biopsied muscles from three patients with PDH complex deficiency and 11 patients with lactic acidemia. Results showed that the total PDH complex activity must be determined in biopsied muscles for the diagnosis, because the basal activities of two of three patients with PDH complex deficiency overlapped those of two patients with lactic acidemia whose total activities were within normal range.

Address correspondence and reprint requests to Dr. Tosbima, Department of Pediatrics, University of Tokushima School of Medicine, Kuramoto-cho-3, Tokushima-shi 770, Japan.

Supported by Grant No. 84–12 from the National Center for Nervous, Mental and Muscular Disorders (NCNMMD) of the Ministry of Health and Welfare of Japan.

Accepted for publication March 7, 1985.






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