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.
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Authors | T Yoneyama, H L Fowler, J W Pendleton, P P Sforza, R D Gerard, C Y Lui, T H Eldridge, A Iranmanesh |
Journal | Clinical genetics
(Clin Genet)
Vol. 42
Issue 1
Pg. 39-42
(Jul 1992)
ISSN: 0009-9163 [Print] Denmark |
PMID | 1516225
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Isoenzymes
- Creatine Kinase
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Topics |
- Aged
- Creatine Kinase
(blood)
- Female
- Humans
- Isoenzymes
- Male
- Osteopetrosis
(diagnostic imaging, enzymology, genetics)
- Pedigree
- Radiography
- Radioimmunoassay
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