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Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. 1981

A P Hays, and M Hallett, and J Delfs, and J Morris, and A Sotrel, and M M Shevchuk, and S DiMauro

A 61-year-old woman with muscle phosphofructokinase (PFK) deficiency had mild limb weakness all her life but no cramps or myoglobinuria. For 5 years the limb weakness progressed. In muscle, PFK activity was 1% of normal and glycogen concentration was elevated (2.13%). By light microscopy, a minor component of the accumulated glycogen appeared as PAS-positive, diastase-resistant inclusions in 10% of muscle fibers. The inclusions had a filamentous fine structure that resembled the abnormal long-chain glycogen of brancher enzyme deficiency. Iodine absorption spectra of both the inclusions and a diastase-resistant fraction of isolated glycogen resembled amylopectin. The abnormal polysaccharide in PFK deficiency may be related to greatly elevated concentration of muscle glucose-6-phosphate, an activator of the chain-elongating enzyme glycogen synthase.

UI MeSH Term Description Entries
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009132 Muscles Contractile tissue that produces movement in animals. Muscle Tissue,Muscle,Muscle Tissues,Tissue, Muscle,Tissues, Muscle
D009135 Muscular Diseases Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D011134 Polysaccharides Long chain polymeric CARBOHYDRATES composed of MONOSACCHARIDES linked by glycosidic bonds. Glycan,Glycans,Polysaccharide
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D005260 Female Females
D006008 Glycogen Storage Disease A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. Glycogenosis,Disease, Glycogen Storage,Diseases, Glycogen Storage,Glycogen Storage Diseases,Glycogenoses,Storage Disease, Glycogen,Storage Diseases, Glycogen
D006014 Glycogen Storage Disease Type VII An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant. Glycogenosis 7,Tarui Disease,Deficiency, Muscle Phosphofructokinase,GSD VII,Glycogen Storage Disease VII,Muscle Phosphofructokinase Deficiency,Pfkm Deficiency,Tarui's Disease,Deficiencies, Muscle Phosphofructokinase,Deficiencies, Pfkm,Deficiency, Pfkm,Disease, Tarui,Disease, Tarui's,Muscle Phosphofructokinase Deficiencies,Pfkm Deficiencies,Phosphofructokinase Deficiencies, Muscle,Phosphofructokinase Deficiency, Muscle,Taruis Disease
D006651 Histocytochemistry Study of intracellular distribution of chemicals, reaction sites, enzymes, etc., by means of staining reactions, radioactive isotope uptake, selective metal distribution in electron microscopy, or other methods. Cytochemistry
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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