Paramidronate treatment improves bone mineral density in children with Menkes disease

Journal of Inherited Metabolic Disease

Volumn 25, Issue 5, 2002, Pages 391-398

  Kanumakala, S ^a   Boneh, A ^b   Zacharin, M ^a,b  

^a Departments of Endocrinology and Diabetes   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CLONAZEPAM; COLLAGEN; COPPER; HISTIDINE; LAMOTRIGINE; OPIATE; PAMIDRONIC ACID; PROTEIN LYSINE 6 OXIDASE; VITAMIN D; BISPHOSPHONIC ACID DERIVATIVE;

ADOLESCENT; ARTICLE; BONE DENSITY; BONE PAIN; CASE REPORT; COMORBIDITY; CONTROLLED STUDY; DISEASE SEVERITY; DRUG EFFECT; DRUG EFFICACY; ENZYME DEFICIENCY; EPILEPSY; FEVER; HUMAN; INTRACELLULAR TRANSPORT; LUMBAR SPINE; MALE; MENKES SYNDROME; OSTEOPOROSIS; PATHOLOGIC FRACTURE; PRESCHOOL CHILD; PROTEIN CROSS LINKING; VITAMIN D DEFICIENCY; BLOOD; CLINICAL TRIAL; INTRAVENOUS DRUG ADMINISTRATION;

ADOLESCENT; BONE DENSITY; CALCIUM; CHILD, PRESCHOOL; DIPHOSPHONATES; HUMANS; INFUSIONS, INTRAVENOUS; MALE; MENKES KINKY HAIR SYNDROME; OSTEOPOROSIS;

EID: 0036708603     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1020103901969     Document Type: Article

References (28)

1. Adami S, Zamberlan N (1996) Adverse effects of bisphosphonates: a comparative review. Drug Saf 14: 158-170.
2. Adams PC, Strand RD, Bresnan MJ, Lucky AW (1974) Kinky hair syndrome: serial study of radiological findings with emphasis on the similarity to the battered child syndrome. Paediatr Radiol 56: 117-118.
3. Allgrove J (1997) Bisphosphonates. Arch Dis Child 76: 73-75.
4. Baer MT, Kozlowski BW, Blyer EM, Trahms CM, Taylor ML, Hogan MP (1997) Vitamin D, calcium and bone status in children with developmental delay in relation to anticonvulsant use and ambulatory status. Am J Clin Nutr 65(4): 1042-1051.
5. Christodoulou J, Danks DM, Sarkar B, et al (1998) Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet 76: 154-164.
6. Dagenais SL, Adam AN, Innis JW, Glover TW (2001) A novel frameshift mutation in exon 23 of ATP7A results in occipital horn syndrome and not in Menkes disease. Am J Hum Genet 69: 420-427.
7. Danks DM (1995) Disorders of copper transport. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2221-2235.
8. Dierick HA, Ambrosini L, Spencer J, Glover TW, Mercer JFB (1995) Molecular structure of the Menkes disease gene (ATP7A). Genomics 28: 462-469.
9. Fleisch H (1998) Bisphosphonates: mechanism of action. Endocr Rev 19: 80-100.
10. Gacheru S, McGee C, Uriu-Hare JY, et al (1993) Expression and accumulation of lysyl oxidase, elastin and type I procollagen in human Menkes and mottled mouse fibroblasts. Arch Biochem Biophys 301: 325-329.
11. Glastre C, Braillon P, David L, Cochat P, Meunier PJ, Delmas PD (1990) Measurement of bone mineral content of the lumbar spine by dual energy X ray absorptiometry in normal children: correlations with growth parameters J Clin Endocrinol Metab 70(5): 1330-1333.
12. Glorieux FH, Bishop NJ, Plotkin H, Chabot G, Lanoue G, Travers R (1998) Cyclic administration of pamidronate in children with severe osteogenesis imperfecta. N Engl J Med 339: 947-952.
13. Jankov RP, Boerkoel CF, Hellmann J, et al (1998) Lethal neonatal Menkes dieease with severe vasculopathy and fractures. Acta Paediatr 87: 1297-1300.
14. Kaler SG (1998) Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol 1: 85-98.
15. Kodama H, Murata Y (1999) Molecular genetics and pathophysiology of Menkes disease. Paediatr Int 41: 430-435.
16. Levinson B, Conant R, Schnur R, Das S, Packman S, Gitschier J (1996) A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum Mol Genet 5: 1737-1742.
17. Menkes JH, Alter M, Steiglder GK, Weakley DR, Sung JH (1962) A sex-linked disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29: 764-779.
18. Molgaard C, Thomsen BL, Michaelsen KF (1999) Whole body bone mineral accretion in healthy children and adolescents. Arch Dis Child 81: 10-15.
19. Reszka AA, Halasy-Nagy JM, Masarachia PJ, Rodan GA (1999) Bisphosphonates act directly on the osteoclast to induce caspase cleavage of Mst1 kinase during apoptosis. J Biol Chem 274(49): 34967-34973.
20. Rogers MJ, Frith JC, Luckman SR, et al (1999) Molecular mechanisms of action of bisphosphonates. Bone 24: 73S-79S.
21. Saag KG, Emkey R, Schnitzer TJ, et al (1998) Alendronate for the prevention and treatment of glucocorticoid-induced osteoporosis. N Engl J Med 339: 292-299.
22. Tumer Z, Horn N (1997) Menkes disease: recent advances and new aspects. J Med Genet 34(4): 265-274.
23. Tumer Z, Horn N (1998) Menkes disease: underlying genetic defect and new diagnostic possibilities. J Inherit Metab Dis 21: 604-612.
24. Tumer Z, Horn N, Tonnesen T, Christodoulou J, Clarke JTR, Sarkar B (1996) Early copper histidine treatment for Menkes disease. Nature Genetics 12: 11-13.
25. van Beek E, Pieterman E, Cohen L, Lowik C, Papapoulos S (1999) Farnesyl pyrophosphate synthase is the molecular target of nitrogen containing bisphosphonates. Biochem Biophys Res Commun 255: 491-494.
26. Zacharin M, Bateman J (2002) Pamidronate treatment of osteogenesis imperfecta-Lack of correlation between clinical severity, age at onset of treatment, collagen mutation and treatment response. J Paediatr Endocrinol Metab 15: 163-174.
27. Zacharin M, Cundy T (2000) Osteoporosis pseudoglioma syndrome. Treatment of spinal osteoporosis with intravenous bisphosphonates. J Paediatr 137(3): 410-415.
28. Zacharin M, O'Sullivan M (2000) Intravenous pamidronate treatment of polyostotic fibrous dysplasia associated with McCune Albright syndrome. J Paediatr 137(3): 403-409.