Adult muscle phosphorylase "b" kinase deficiency
- 1 April 1986
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 36 (4) , 560-562
- https://doi.org/10.1212/wnl.36.4.560
Abstract
A 35-year-old man had severe exercise intolerance and cramps. Venous blood lactate did not rise after ischemic exercise, and electromyographically silent contracture of hand muscles appeared. Histochemistry and electronmicroscopy of a muscle biopsy revealed subsarcolemmal and intermyofibrillar accumulation of glycogen. Biochemical studies showed moderately increased amount of glycogen. Total phosphorylase activity was normal, but the active form "a" was 27% of normal. Phosphorylase kinase activity was 12% of the normal value and was normal in leukocytes and erythrocytes.This publication has 9 references indexed in Scilit:
- Kinetic properties of erythrocyte phosphofructokinase in patients with type VII glycogenosis from two families — close similarity to liver type phosphofructokinaseJournal of Inherited Metabolic Disease, 1983
- Myopathy due to glycogen storage diseaseExperimental and Molecular Pathology, 1983
- Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiencyNeurology, 1982
- Patterns of amino acid efflux from isolated normal and cystinotic human leucocyte lysosomes.Journal of Biological Chemistry, 1982
- Fatal infantile glycogen storage diseaseNeurology, 1981
- Glycogenosis Due to Liver and Muscle Phosphorylase Kinase DeficiencyPediatric Research, 1981
- The autosomal form of phosphorylase kinase defficiency in man: Reduced activity of the muscle enzymeBiochemical and Biophysical Research Communications, 1980
- Diagnosis of Pompe's disease in cultured skin fibroblasts and primary amniotic fluid cells using 4-methylumbelliferyl-α-d-glucopyranoside as substrateClinica Chimica Acta; International Journal of Clinical Chemistry, 1977
- The quantitative enzymic determination of animal liver glycogenAnalytical Biochemistry, 1966