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Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency

Department of Pediatrics (Drs. Ohtani, Matsuda, Tamari, Origuchi, and Miike), and the Department of Pathology (Dr. Iwamasa), Kumamoto University Medical School, Kumamoto, Japan.

A 19-month-old girl with moderate hypotonia was studied. Histochemical and electronmicroscopic findings revealed that many skeletal muscle fibers contained an excess amount of glycogen. The phosphorylase reaction was normalized only after activation with 5' AMP. Biochemical studies showed an increased glycogen content and decreased activities of phosphorylase "a" and an active form of phosphorylase kinase, whereas activities of total phosphorylase, total phosphorylase kinase, and cyclic AMP-dependent protein kinase were all in the normal range. Thus, phosphorylase kinase in the patient's muscle seemed to be a variant form, which was activated partially under the physiologic condition. This condition may be inherited as an X-linked recessive trait.

Address correspondence and reprint requests to Dr. Ohtani, Department of Pediatrics, Kumamoto University Medical School, 860 Kumamoto, Japan.

Accepted for publication December 21, 1981.