Pyruvate-kinase (PK) and creatine-kinase (CK) in normal pregnancy and its implication in genetic counseling of duchenne muscular dystrophy (DMD)

✍ Scribed by Zatz, Mayana ;Karp, L. E. ;Rogatko, A. ;Opitz, John M.

• Publisher: John Wiley and Sons
• Year: 1982
• Tongue: English
• Weight: 405 KB
• Volume: 13
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320130305

✦ Synopsis

Abstract

The activities of pyruvate‐kinase (PK) and creatine‐kinase (CK) were measured in 50 normal pregnant women in both serum and amniotic fluid. Serum PK activity was found to be significantly higher in pregnant than in nonpregnant women, while serum CK did not differ significantly between the two population samples. In amniotic fluid, very little or no PK or CK activity was found. However, the mean PK activity in amniotic fluid obtained from women carrying male fetuses was significantly higher than in those carrying female fetuses. At the present time, it is concluded that if a woman at risk for having a son with Duchenne dystrophy is seeking genetic counseling when already pregnant her serum PK or CK should be compared with that of normal female pregnant controls. It is also suggested that determination of pyruvate‐kinase in fetal blood might be used in addition to CK for prenatal diagnosis of Duchenne muscular dystrophy.