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Fatal infantile glycogen storage disease

Deficiency of phosphofructokinase and phosphorylase b kinase

Departments of Neurology (Dr. Danon), Pathology (Drs Danon and Manaligod !, and Biological Chemistry (Dr. Schliselfeld), University of Illinois Medical Center, Chicago, IL, and the Department of Neurology-Neurosurgery (Dr. Carpenter), McGill University and the Montreal Neurological Institute, Montreal, Canada.

A girl with congenital limb weakness, mental retardation, and corneal ulceration died with respiratory insufficiency at age 4 years. Histochemistry of muscle biopsy showed only nonspecific myopathy, but electronmicroscopy revealed subsarcolemmal and intramyofibrillar accumulation of glycogen. Biochemical studies showed increased glycogen content of muscle with lack of phosphofructokinase. Phosphorylase b kinase activity was about 30% of normal. The relationship of the double enzyme deficiency to this unusual clinical picture is unclear.

Address correspondence and reprint requests to Dr. Danon, University of Illinois Medical Center, Neurology Department, Room 855, 912 South Wood Street, Chicago, IL 60612.

Accepted for publication February 4. 1981.

Presented in part at the thirty-first annual meeting of the American Academy of Neurology, Chicago, April 1979