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Late-onset muscular weakness in phosphofructokinase deficiency due to exon 5/intron 5 junction point mutation

A unique disorder or the natural course of this glycolytic disorder?

Departments of Neurology (Dr. Argov), Clinical Biochemistry (Dr. Barash), and Pathology (Dr. Soffer), Hebrew University-Hadassah School of Medicine, Jerusalem, Israel; and the Arthritis and Rheumatism Branch (Drs. Sherman and Raben), National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD.

Late-onset muscle weakness is rare in glycolytic disorders. There are two reports in the literature of phosphofructokinase (PFK)-deficient Ashkenazi Jews with severe vacuolar myopathy manifesting in late adulthood. The genetic abnormality in these patients is unknown. We report a third patient with a similar syndrome: early-onset exercise intolerance in young childhood and progressive weakness in a limb-girdle distribution appearing at 57 years of age, leading to severe incapacity. Muscle histology showed diffuse vacuolar changes, and muscle fibers contained excess glycogen-like material. Muscle biochemistry was diagnostic for PFK deficiency. DNA analysis from the patient and his family showed that he was homozygous for a recently identified point mutation at the exon 5/intron 5 junction (a G-to-A change); two other family members were heterozygous for this mutation. It is not clear whether late-onset weakness is the natural course for all PFK-deficient patients or whether the exon 5 mutation carries increased risk for this severe myopathy.

Address correspondence and reprint requests to Dr. Zohar Argov, Department of Neurology, Hadassah University Hospital, Jerusalem 91120, Israel.

Presented in part at the 41st annual meeting of the American Academy of Neurology, Chicago, IL, April 1989.

Received September 13, 1993. Accepted for publication in final form December 7, 1993.