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 PFK 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.
Creatinuria, diminished urinary creatinine excretion and low concentrations of creatine in skeletal muscle are characteristic findings in progressive muscular dystrophy in man (1). These abnormalities of creatine metabolism are sometimes thought to be nonspecific changes secondary to a smaller muscle mass (2), but this has not been proven; and, because of the probable importance of phosphocreatine to energy metabolism in skeletal muscle (3), it is possible that an abnormality of creatine metabolism would contribute to the weakness if not to the actual damage of muscle fibers in muscular dystrophy. It is therefore important to establish the nature of the defect in creatine metabolism in muscular dystrophy.Since the hereditary myopathy of mice described by Michelson, Russell and Harman (4) resembles progressive muscular dystrophy, an investigation of creatine metabolism in these mice was undertaken. It was found that the muscle creatine of the dystrophic mouse has a shortened turnover time1 which suggests that the low concentration of creatine in the skeletal muscle in this condition is due to an impaired ability to retain creatine. METHODSStrain 129 dystrophic mice and their normal litter mates, approximately 8 weeks of age and of both sexes, were obtained from the Roscoe B. Jackson Memorial Laboratory. They were given a purified diet consisting *
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