Abstract
Serum PK and CPK determinations have been carried out in 172 individuals, including 50 normal controls, 68 patients with a variety of neuromuscular disorders and 50 female relatives of patients with the X-linked forms of muscular dystrophy, to confirm clinical diagnosis and to evaluate heterozygote detection in potential carriers. In control individuals the mean activity(±S.D.) for PK is 1.2±0.46μmol/ml/h(with no differences between the sexes) and for CPK 5.5±1.9 Sigma units for females and 8.6±5.0 for males. In 21 patients with Duchenne dystrophy the range of PK is 7.3 to 150.4, and in 9 with the Becker type from 2.5 to 148.7. All had significantly elevated CPK levels. Six patients with the facio-scapulo-humeral form of dystrophy(including one with a probable diagnosis) had increased PK levels, while only 3 had elevated CPK levels. In 8 obligate carriers of the Duchenne gene, 7 had levels above the normal range, and 5 had elevated CPKs. Increased PKs were found in 9 of the 16 mothers of isolated cases, 10 of 14 patients' sisters and 2 among 6 other female relatives. Only 7 females in these three groups had increased CPK activity. Two of 4 obligate carriers for the Becker gene had an increase in both PK and CPK. These data suggest that the combined use of PK and CPK determinations may enhance the capability to discriminate carriers of the X-linked muscular dystrophies.
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Zatz, M., Shapiro, L., Kaback, M. et al. COMPARISON OF SERUM PYRUVATE-KHIASE (PK) AND CREATINE-PHOSPHOKIHASE (CPK) IN CARRIER DETECTION OF X-LINKED MUSCULAR DYSTROPHIES. Pediatr Res 11, 466 (1977). https://doi.org/10.1203/00006450-197704000-00576
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DOI: https://doi.org/10.1203/00006450-197704000-00576