Abstract

Plasma creatine kinase (CK) and pyruvate kinase (PK) were measured in 31 obligate carriers of Becker muscular dystrophy (BMD), 36 BMD patients and appropriate controls.

Mean plasma CK was 108 U/l in obligate carriers and 62 U/l in 43 age- and sex-matched controls (P < 0.001 carriers vs controls). Control CK reference range was 31–125 U/l (mean ± 2 SD of log transformed values). Mean plasma PK was 40 U/l in obligate carriers and 34 U/l in 56 controls (P < 0.02 carriers vs controls). Control PK reference range was 18–61 U/l. Values of CK above the reference range upper limit were found in 13 of 31 BMD obligate carriers but only 2 showed elevated PK values. The sensitivity of CK in determining BMD carrier status, although only 42%, was markedly better than PK at 6.5%.

Mean plasma CK in BMD patients was 2366 U/l, a 19-fold increase over the control value of 127 U/l (P < 0.001 patients vs controls). Control CK reference range was 40–316 U/l. In contrast, mean plasma PK in BMD patients was 353 U/l, only 7-fold higher than the mean control value of 57 U/l (P < 0.001 patients vs controls). Control PK reference range was 22–126 U/l.

Clearly, the estimation of plasma PK as a means of determining BMD carrier status is markedly inferior to CK. Previous reports of increased sensitivity of PK compared with CK may have been due to artefactually elevated PK levels produced during sample preparation.

Keywords: Becker muscular dystrophy; Creatine kinase; Pyruvate kinase