Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis Type II — a family study
- 1 July 1992
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 42 (1) , 39-42
- https://doi.org/10.1111/j.1399-0004.1992.tb03134.x
Abstract
A markedly elevated BB isoenzyme fraction of serum creatine kinase was noted in four male siblings and correlated with typical radiographic findings of autosomal dominant osteopetrosis Type II (ADO Type II). Patients with other sclerosing bone diseases had no elevation of CK-BB. The precision of the electrophoretic mobility patterns and correlation by I-125 tagged radioimmunoassay method confirms that this is CK-BB. We postulate that the dysfunctional and/or immature osteoclasts in ADO are more dependent on CK-BB than on the usual tricarboxylic acid cycle for the production of energy. The correlation of marked elevation of serum CK-BB with radiographic evidence of ADO Type II may prove to be of value as a biologic marker in the early diagnosis of the illness and lead to better understanding of the metabolism of bone.Keywords
This publication has 17 references indexed in Scilit:
- Elevated Levels of Creatine Kinase BB Isoenzyme in Three Patients with Adult OsteopetrosisNew England Journal of Medicine, 1989
- The BB-isoenzyme is a major component of creatine kinase in skin blister fluidBritish Journal of Dermatology, 1988
- Creatine kinase brain isoenzyme in infantile osteopetrosisPediatric Neurology, 1987
- Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral CalcificationNew England Journal of Medicine, 1985
- A mild autosomal recessive form of osteopetrosisAmerican Journal of Medical Genetics, 1984
- Creatine kinase in seminal plasma of infertile men: Activity and isoenzymesInternational Journal of Andrology, 1981
- Successful Bone-Marrow Transplantation for Infantile Malignant OsteopetrosisNew England Journal of Medicine, 1980
- Creatine kinase BB isoenzyme levels by radioimmunoassay in patients with neurological diseaseAnnals of Neurology, 1978
- A review of the osteopetrosesPublished by Oxford University Press (OUP) ,1977
- Specificity of elevated serum MB creatine phosphokinase activity in the diagnosis of acute myocardial infarctionThe American Journal of Cardiology, 1975