title: Serum pyruvate kinase in different neuromuscular diseases and in carriers of muscular dystrophy.
abstract: Serum pyruvate kinase and creatine kinase activities were measured in a group of patients with various neuromuscular diseases and in carriers of muscular dystrophy. Elevated values of PK were usually but not invariably associated with elevated levels of CK. THe data showed that PK activity was elevated in all patients with DMD, high values generally correlating inversely with age or disease duration. In definite carriers, the level of PK was raised simultaneously with CK, while in potential carriers, classified by their relationship with MD patients in mothers, sisters and other relatives, the PK levels were elevated in 23%, 44% and 10% respectively, indicating especially for sisters, an increased genetic probability of being a definite carrier. In this way, we have confirmed that the serum PK assay is more sensitive in younger subjects and that combined CK and PK measurement will be of value in detecting a higher proportion of potential carriers.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000201:enzymology / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000201:enzymology*; D011336:Probability; D011770:Pyruvate Kinase / Q000097:blood*
chemical_list: D011770:Pyruvate Kinase; D003402:Creatine Kinase