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NEUROLOGY 1986;36:1465
© 1986 American Academy of Neurology

Fatal infantile form of muscle phosphofructokinase deficiency

Serenella Servidei, MD, Eduardo Bonilla, MD, Richard G. Diedrich, MD, Mario Kornfeld, MD, James D. Oates, MD, Mercy Davidson, PhD, Shobbana Vora, MD and Salvatore DiMauro, MD

H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases (Drs. Servidei, Bonilla, Davidson, and DiMauro), Columbia-Presbyterian Medical Center, New York, NY; the Departments of Pediatrics (Dr. Diedrich) and Pathology (Drs. Kornfeld and Oates), Presbyterian Hospital, Albuquerque, NM; and the Department of Basic and Clinical Research (Dr. Vora), Scripps Clinic and Research Foundation, La Jolla, CA.

We studied a girl with an infantile syndrome of limb weakness, seizures, cortical blindness, and corneal opacifications; she died at age 7 months of respiratory failure. There was no consanguinity or family history of neuromuscular diseases. Histochemical and biochemical studies of muscle showed mildly increased glycogen content and markedly decreased PPK activity (1.4% of the normal mean). Anaerobic glycolysis in vitro confirmed the metabolic block. Immunofluorescence and immunotitration by ELISA using monoclonal antibodies against subunit M of PFK showed a normal amount of cross-reacting material. The brain showed typical features of neuroaxonal dystrophy. This variant of PFK deficiency may be due to a distinct genetic defect.

Address correspondence and reprint requests to Dr. DiMauro, 4–420 College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032.

Supported by Center Grants NS-11766 from the National Institute of Neurological and Communicative Disorders and Stroke and from the Muscular Dystrophy Association, and by Grant AM-25500 from the National Institute of Arthritis, Diabetes and Kidney Diseases.

Dr. Servidei is the recipient of a postdoctoral research fellowship from the Unione Italians Lotta contro la Distrofia Muscolare (UILDM), Sezione Laziale "Giulia Testore."

Accepted for publication March 12, 1986.






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