Creatine kinase brain isoenzyme (BB-CK) presence in serum distinguishes osteopetroses among the sclerosing bone disorders

Journal of Bone and Mineral Research

Volumn 11, Issue 10, 1996, Pages 1438-1443

  Whyte, Michael P ^a,b   Chines, Arkadi ^a,b,c   Silva Jr , David P ^d,e   Landt, Yvonne ^c   Ladenson, Jack H ^c  

^a SHRINERS HOSPITAL FOR CHILDREN   (United States)

^b BARNES JEWISH HOSPITAL   (United States)

^c PROCTER AND GAMBLE COMPANY   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e Ortho Clinical Diagnostics Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMICAL MARKER; CARBONATE DEHYDRATASE II; CREATINE KINASE; CREATINE KINASE BB;

ADOLESCENT; ADULT; ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL INHERITANCE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME BLOOD LEVEL; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; INFANT; MALE; NEWBORN; OSTEOSCLEROSIS; PATHOGENESIS; UMBILICAL CORD BLOOD;

EID: 0029782606     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1002/jbmr.5650111010     Document Type: Article

References (38)

1. Whyte MP 1993 Osteopetrosis and the heritable forms of rickets. In: Royce PM, Steinmann B (eds.) Connective Tissue and Its Heritable Disorders. Wiley-Liss, New York, NY, U.S.A., pp. 563-570.
2. Whyte MP 1992 Recent advances in osteopetrosis. In: Cohn DV, Gennari C, Tashian AH Jr. (eds.) Calcium Regulating Hormones and Bone Metabolism: Basic and Clinical Aspects, Vol 11, International Congress Series 1003. Elsevier Science Publishers, B. V. Amsterdam, The Netherlands, pp. 420-430.
3. Whyte MP 1995 Chipping away at marble bone disease (editorial). New Engl J Med 332:1639-1640.
4. Whyte MP 1993 Carbonic anhydrase II deficiency. Clin Orthop 294:52-63.
5. Sly WS, Hu PY 1995 The carbonic anhydrase II deficiency syndrome: Osteopetrosis with renal tubular acidosis and cerebral calcification. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds.) The Metabolic and Molecular Bases of Inherited Disease, 7th ed. McGraw-Hill Book Company, New York, NY, U.S.A., pp. 4113-4124.
6. Hiroyama Y, Miike T, Sugino S, Taku K 1987 Creatine kinase brain isoenzyme in infantile osteopetrosis. Ped Neurol 3:54-57.
7. Yoneyama T, Fowler HL, Pendleton JW, Sforza PP, Lui CY, Iranmanesh A, Gerard RD 1989 Elevated levels of creatine kinase BB isoenzyme in three patients with adult osteopetrosis. New Engl J Med 320:1284-1285.
8. Gram J, Antonsen S, Horder M, Bollerslev J 1991 Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II. Calcif Tissue Int 48:438-439.
9. Yoneyama T, Fowler HL, Pendleton JW, Sforza PP, Gerard RD, Lui Cy, Eldridge TH, Iranmanesh A 1992 Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II-a family study. Clin Genet 42:39-42.
10. Horton WA, Schimke RN, Iyama T 1980 Osteopetrosis: Further heterogeneity. J Pediatr 97:580-585.
11. Whyte MP, Murphy WA, Fallon MD, Sly WS, Teitelbaum SL, McAlister WH, Avioli LV 1980 Osteopetrosis, renal tubular acidosis, and basal ganglia calcification in three sisters. Am J Med 69:64-74.
12. Sly WS, Hewett-Emmett D, Whyte MP, Yu YSL, Tashian RE 1983 Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification. Proc Natl Acad Sci USA 80:2752-2756.
13. Whyte MP, Murphy WA 1980 Osteopathia striata associated with familial dermopathy and white forelock: Evidence for postnatal development of osteopathia striata. Am J Med Gen 5:227-234.
14. Golub DS, McAlister WH, Henthorn PS, Teitelbaum S, Fedde KN, Reinus W, Beeki S, Whyte MP 1996 Juvenile Paget disease: Life-long features in a mildly affected young woman. J Bone Miner Res 11:132-142.
15. Civitelli R, McAlister WH, Teitelbaum SL, Whyte MP 1989 Central osteosclerosis with ectodermal dysplasia: Clinical laboratory, radiographic, and histopathologic characterization with review of the literature. J Bone Miner Res 4:863-875.
16. Villareal DT, Murphy W, Teitelbaum SL, Arens MQ, Whyte MP 1992 Painful diffuse osteosclerosis after intravenous drug abuse. Am J Med 93:371-381.
17. Oliver IT 1955 Spectrophotometric method for the determination of creatine phosphokinase and myokinase. Biochem J 61:116-127.
18. Rosalki SB 1967 An improved procedure for serum creatine phosphokinase determination. J Lab Clin Med 69:696-705.
19. Whyte MP, Silva DP, Ladenson JA 1990 Creatine kinase (brain isoenzyme) activity is elevated in the serum of select cases of osteopetrosis, but not in other sclerosing bone disorders (abstract). J Bone Miner Res 5:S-239.
20. Bollerslev J, Steiniche T, Melsen F, Mosekilde L 1989 Structural and histomorphometric studies of iliac crest trabecular and cortical bone in autosomal dominant osteopetrosis: a study of two radiological types. Bone 10:19-24.
21. Ishikawa T, Saito M, Morishita H, Watanabe I 1995 Effect of hypocalcemia on muscle in disorders of calcium metabolism. Acta Paediatr Jpn 37:367-369.
22. Frame B, Honasoge M, Kottamasu SR 1987 Osteosclerosis, Hyperostosis, and Related Disorders. Elsevier, New York, NY, U.S.A.
23. Whyte MP, Murphy WA 1990 Osteopetrosis and other sclerosing bone disorders. In: Avioli LV and Krane SM (eds.) Metabolic Bone Disease, 2nd ed. Academic Press, New York, NY, U.S.A., pp. 616-658.
24. Moss DW, Henderson AR 1994 Enzymes. In: Burtis CA, Ashwood ER (eds.) Tietz Textbook of Clinical Chemistry, 2nd ed. W.B. Saunders Co., Philadelphia, PA, U.S.A., pp. 735-896.
25. Roberts R, Gowda KS, Ludbrook PA, Sobel BE 1975 Specificity of elevated serum MB creatine phosphokinase activity in the diagnosis of acute myocardial infarction. Am J Cardiol 36:433-437.
26. Pesce MA 1982 The CK isoenzymes: Findings and their meaning. Lab Manage 20:25-37.
27. Silverman LM, Caruso LM, Irwin LE, Kitzman M, Pincus FE 1978 Creatine kinase BB isoenzyme activity in bone marrow serum (letter). Clin Chem 24:1423-1425.
28. Funanage VL, Carango P, Shapiro IM, Tokuoka T, Tuan RS 1992 Creatine kinase activity is required for mineral deposition and matrix synthesis in endochondral growth cartilage. Bone Miner 17:228-236.
29. 31P-NMR studies of resting zone cartilage from growth plate. Magn Reson Med 25:355-361.
30. Shapiro IM, Debolt K, Funanage VL, Smith S, Tuan RS 1992 Developmental regulation of creatine kinase activity in cells of the epiphyseal growth cartilage. J Bone Miner Res 7:493-500.
31. Somjen D, Weisman Y, Mor Z, Harell A, Kaye AM 1992 Regulation of proliferation of rat cartilage and bone by sex steroid hormones. J Steroid Biochem Mol Biol 40:717-723.
32. Somjen D, Kaye AM, Binderman I 1984 24R,25-dihydroxyvitamin D stimulates creatine BB activity in chick cartilage cells in culture. FEBS Lett 167:281-284.
33. Wallimann T, Wyss M, Brdiczka D, Nicolay K, Eppenberger HM 1992 Intracellular compartmentation, structure and function of creatine kinase isoenzymes in tissues with high and fluctuating energy demands: The 'phosphocreatine circuit' for cellular energy homeostasis. Biochem J 281:21-40.
34. Whyte MP, Teitelbaum SL, Reinus WR 1996 Doubling skeletal mass during adult life: The syndrome of diffuse osteosclerosis after intravenous drug abuse. J Bone Miner Res 11:554-558.
35. Grodum E, Gram J, Brixen K, Bollerslev J 1995 Autosomal dominant osteopetrosis: Bone mineral measurements of the entire skeleton of adults in two different subtypes. Bone 16:431-434.
36. Ogur G, Ogur E, Celasun B, Baser I, Imirzalioglu N, Ozturk T, Alemdaroglut A 1995 Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X-ray evaluation. Prenatal Diagn 15:477-481.
37. Teitelbaum SL, Tondravi MM, Ross FP 1996 Osteoclast biology. In: Marcus R, Feldman D, Kelsey J (eds.) Osteoporosis. Academic Press, San Diego, CA, U.S.A. pp. 61-94.
38. Tondravi MM, Erdmann JM, McKercher S, Anderson K, Maki R, Teitelbaum SL 1995 Novel osteopetrosis mutation caused by the knock out of the hematopoietic transcription factor PU.1 in transgenic mice (abstract). J Bone Miner Res 10:S175.