Adult muscle phosphorylase "b" kinase deficiency.
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.
Abarbanel
J M
JM
Bashan
N
N
Potashnik
R
R
Osimani
A
A
Moses
S W
SW
Herishanu
Y
Y
D000328:Adult; D006801:Humans; D008297:Male; D009120:Muscle Cramp / Q000201:enzymology; D009135:Muscular Diseases / Q000201:enzymology*; D010763:Phosphorylase b / Q000172:deficiency*; D006005:Phosphorylases / Q000172:deficiency*; D005082:Physical Exertion
D010763:Phosphorylase b; D006005:Phosphorylases