Biochemical indicator for evaluation of connective tissue abnormalities in Menkes' disease

Journal of Pediatrics

Volumn 142, Issue 6, 2003, Pages 726-728

  Kodama, Hiroko ^a   Sato, Emi ^b   Yanagawa, Yukisige ^b   Ozawa, Hiroshi ^b   Kozuma, Takamitsu ^b  

^a TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CERULOPLASMIN; COPPER; DEOXYPYRIDINOLINE; PROCOLLAGEN C PROTEINASE; PROTEIN LYSINE 6 OXIDASE;

ARTICLE; BIOCHEMISTRY; CHEMICAL ANALYSIS; CLINICAL ARTICLE; COLLAGEN METABOLISM; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; ENZYME ACTIVITY; HUMAN; INFANT; MENKES SYNDROME; METABOLITE; PRIORITY JOURNAL; URINE LEVEL;

EID: 0037794538     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2003.211     Document Type: Article

References (12)

1. Kodama H, Murata Y. Molecular genetics and pathophysiology of Menkes' disease. Pediatr Int 1999;41:430-5.
2. Royce PM, Camakaris J, Danks DM. Reduced lysyl oxidase activity in skin fibroblasts from patients with Menkes' syndrome. Biochem J 1980;192:579-86.
3. Gacheru S, McGee C, Uriu-Hare JY, Kosonen T, Packman S, Tinker D, et al. Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes' and mottled mouse fibroblasts. Arch Biochem Biophys 1993;301:325-9.
4. Kemppainen R, Hamalainen ER, Kuivaniemi H, Tromp G, Pihlajaniemi T, Kivirikko KI. Expression of mRNAs for lysyl oxidase and type III procollagen in cultured fibroblasts from patients with the Menkes' and occipital horn syndromes as determined by quantitative polymerase chain reaction. Arch Biochem Biophys 1996;328:101-6.
5. Rucker RB, Kosonen T, Clegg MS, Mitchell AE, Rucker BR, Uriu-Hare J, et al. Copper, lysyl oxidase, and extracellular matrix protein cross-linking. Am J Clin Nutr 1998;67(suppl):996S-1002S.
6. Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment of Menkes' disease and its variants. Pediatr Int 1999;41:423-9.
7. Gu YH, Kodama H, Murata Y, Mochizuki D, Yanagawa Y, Ushijima H, et al. ATP7A gene mutations in 16 patients with Menkes' disease and a patient with occipital horn syndrome. Am J Med Genet 2001;99:217-22.
8. Sarkar B, Lingertat-Walsh K. Clarke JT. Copper-histidine therapy for Menkes' disease. J Pediatr 1993;123:828-30.
9. Sharp CA, Oginni LM, Worsfold M, Oyelami OA, Risteli L, Risteli J, et al. Elevated collagen turnover in Nigerian children with calcium-deficiency rickets. Calcif Tissue Int 1997;61:87-94.
10. Mora S, Prinster C, Proverbio MC, Bellini A, de Poli SC, Weber G, et al. Urinary markers of bone turnover in healthy children and adolescents: age-related changes and effect of puberty. Calcif Tissue Int 1998;63:369-74.
11. Christodoulou J, Danks DM, Sarkar B, Baerlocher KE, Casey R, Horn N, et al. Early treatment of Menkes' disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet 1998;76:154-64.
12. Withold W. Monitoring of bone turnover biological, preanalytical and technical criteria in the assessment of biochemical markers. Eur J Clin Chem Clin Biochem 1996;34:785-99.