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Robert B. Layzer, MD; Lewis P. Rowland, MD; Helen M. Ranney, MD

Arch Neurol. 1967;17(5):512-523.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

The clinical hallmarks of muscle phosphorylase deficiency (McArdle's disease) are muscle cramps and exercise intolerance, contracture following ischemic work, and episodic myoglobinuria. We have encountered a patient with all these symptoms who proved to lack muscle phosphofructokinase (PFK) rather than phosphorylase. This paper describes the results of biochemical and immunological characterization of the metabolic abnormality. Phosphofructokinase deficiency was first described in a detailed biochemical study by Tarui et al,¹ the only previous report.

Phosphofructokinase catalyzes the conversion of fructose-6-phosphate to fructose¹, 6-diphosphate (Fig 1). This enzymatic step is one of the main rate-limiting steps of glycolysis,² and there is evidence that the regulation of glycolysis by aerobic metabolism (the Pasteur effect) is mediated by factors regulating the activity of PFK.^3-5 Since glycogen accumulates in excessive amounts in muscle, PFK deficiency can be regarded as a fourth type of muscle glycogenosis, along with deficiencies of phosphorylase, amylo-1, 6-glucosidase . . . [Full Text PDF of this Article]

Author Affiliations
New York

From the Department of Neurology, College of Physicians and Surgeons, Columbia University, and the Neurological Clinical Research Center, Neurological Institute, Columbia-Presbyterian Medical Center, and the Heredity Clinic and Department of Medicine, Albert Einstein College of Medicine, Yeshiva University, New York.

Footnotes
Submitted for publication June 19, 1967; accepted June 30.

Read in part before the annual meeting of the American Neurological Association, Atlantic City, NJ, June, 1967.

Reprint requests to Department of Neurology, University of California School of Medicine, San Francisco 94122 (Dr. Layzer).

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