Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in progressive muscular dystrophies.
PK and CPK have been determined in the serum from 208 individuals including 70 normal controls (61 adults and 9 children) and 138 patients with a variety of neuromuscular disorders. In adult controls the mean activity (+/- SE) for PK is 1.2 +/- 0.05 mumol/ml/h. In normal children PK activity was about twice as high as in normal adults and decreases with increasing age. In 26 patients with Duchenne dystrophy the range of serum PK was 4.0-150.4 and in 17 individuals with the Becker type, 3.0 to 148.7. All had elevated PK and CPK levels. Eighteen of 20 patients with the facio-scapulo-humeral (FSH) from of muscular dystrophy had increased PK while only 9 had elevated CPK. Regression analyses have shown an inverse correlation between PK levels and age (or degree of disability in DMD). Kinetic and electrophoretic studies indicate that the PK isozyme found in the serum from affected patients and from heterozygotes for the DMD gene is mainly the M1 type PK, which is the only PK isozyme found in skeletal muscle and brain and the major component from myocardium.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood*; D004591:Electrophoresis, Polyacrylamide Gel; D005152:Facial Muscles; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000175:diagnosis; D009136:Muscular Dystrophies / Q000201:enzymology* / Q000235:genetics; D011770:Pyruvate Kinase / Q000097:blood*; D012016:Reference Values; D012782:Shoulder; D013577:Syndrome
D011770:Pyruvate Kinase; D003402:Creatine Kinase