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Menkes Disease (Kinky-Hair Syndrome)

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Menkes and colleagues described Menkes disease in 1962 that reported five male infants in a family affected with a distinctive syndrome of neurologic degeneration, peculiar hair, and failure to thrive. The Menkes disease is also called “kinky or steely hair disease”. The incidence of the Menkes disease is estimated to be 1/100,000–1/250,000 live births.

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References

  1. Abusaad I, Mohammed SN, Ogilvie CM, et al.: Clinical expression of Menkes disease in a girl with X;13 translocation. Am J Med Genet 87:354–359, 1999.

    Article  CAS  PubMed  Google Scholar 

  2. Bankier A: Menkes disease. J Med Genet 32:213–215, 1995.

    CAS  PubMed  Google Scholar 

  3. Chang CH: Menkes disease. Emedicine J, 2002.

    Google Scholar 

  4. Chelly J, Tumer Z, Tonnesen T, et al.: Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genet 3:14–19, 1993.

    Article  CAS  PubMed  Google Scholar 

  5. Christodoulou J, Danks DM, Sarkar B, et al.: Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet 76:154–164, 1998.

    Article  CAS  PubMed  Google Scholar 

  6. Culotta VC, Gitlin JD: Disorders of copper transport. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic & Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill, 2001, Chapter 126, pp 3105–3126.

    Google Scholar 

  7. Danks DM, Campbell PE, Stevens BJ, et al.: Menkes’ kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics 50:188–201, 1972.

    CAS  PubMed  Google Scholar 

  8. Das S, Whitney S, Taylor J, et al.: prenatal diagnosis of Menkes disease by mutation analysis. J Inher Metab Dis 18:364–365, 1995.

    Article  CAS  PubMed  Google Scholar 

  9. Gu YH, Kodama H, Murata Y, et al.: ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome. Am J Med Genet 99:217–222, 2001.

    Article  CAS  PubMed  Google Scholar 

  10. Gu YH, Kodama H, Sato E, et al.: Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement. Brain Dev 24:715–718, 2002.

    Article  PubMed  Google Scholar 

  11. Horn N: Menkes X linked disease: Heterozygous phenotype in uncloned fibroblast cultures. J Med Genet 17:257–261, 1980.

    CAS  PubMed  Google Scholar 

  12. Horn N: Menkes X-linked disease: Prenatal diagnosis of hemizygous males and heterozygous females. Prenat Diagn 1:107–120, 1981.

    Article  CAS  PubMed  Google Scholar 

  13. His G, Cox DW: A comparison of the mutation spectra of Menkes disease and Wilson disease. Hum Genet 114:165–172, 2004.

    Article  CAS  Google Scholar 

  14. Imaeda S: Menkes kinky hair disease. Emedicine J 2002.

    Google Scholar 

  15. Kaler SG: Mendes disease. Adv Pediatr 41:263–304, 1994.

    CAS  PubMed  Google Scholar 

  16. Kaler S: Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol 1:85–98, 1998.

    Article  CAS  PubMed  Google Scholar 

  17. Kaler SG, Tümer Z: Prenatal diagnosis of Menkes disease. Prenat Diagn 18:287–289, 1998.

    Article  CAS  PubMed  Google Scholar 

  18. Kapur S, Higgins JV, Delp K, et al.: Menkes syndrome in a girl with X-autosome translocation. Am J Med Genet 26:503–510, 1987.

    Article  CAS  PubMed  Google Scholar 

  19. Kim B-E, Smith K, Petris MJ: A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase. J Med Genet 40:290–295, 2003.

    Article  CAS  PubMed  Google Scholar 

  20. Kodama H, Murata Y: Molecular genetics and pathophysiology of Menkes disease. Pediatr Int 41:430–435, 1999.

    Article  CAS  PubMed  Google Scholar 

  21. Kodama H, Murata Y, Kobayashi M: Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 41:423–429, 1999.

    Article  CAS  PubMed  Google Scholar 

  22. Kreuder J, Otten A, Fuder H, et al.: Clinical and biochemical consequences of copper-histidine therapy in Menkes disease. Eur J Pediatr 152:828–832, 1993.

    Article  CAS  PubMed  Google Scholar 

  23. Lazoff SG, Ryback JJ, Parker BR, et al.: Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy: a new hereditary syndrome. Birth Defects 41:71–74, 1975.

    Google Scholar 

  24. Martins C, Goncalves C, Moreno A, et al.: Menkes’ kinky hair syndrome: ultrastructural cutaneous alterations of the elastic fibers. Pediatr Dermatol 14:347–350, 1997.

    CAS  PubMed  Google Scholar 

  25. Menkes JH: Kinky hair disease. Pediatrics 50:181–183, 1972.

    CAS  PubMed  Google Scholar 

  26. Menkes JH: Disorders of copper metabolism. In Rosenberg R, Prusiner S, DiMauro S, Barchi R (eds): The Molecular and Genetic Basis of Neurological Disease. Butterworth-Heinemann, Boston, 1997, pp 1273–1290.

    Google Scholar 

  27. Menkes JH: Kinky hair disease: twenty five years later. Brain Dev 10:77–79, 1988.

    CAS  PubMed  Google Scholar 

  28. Menkes JH: Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease. Eur J Paediatr Neurol 3:147–158, 1999.

    Article  CAS  PubMed  Google Scholar 

  29. Menkes JH, Alter M, Steigleder GK, et al.: A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29:764–779, 1962.

    CAS  PubMed  Google Scholar 

  30. Mercer J, Livingston J, Hall B: Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genet 3:20–25, 1993.

    Article  CAS  PubMed  Google Scholar 

  31. Packman S: Copper metabolism. In Rimoin DL, Connor JM, Pyeritz RE, Korf BR (eds): Emery and Rimoin’s Principles and Practice of Medical Genetics, 4th ed, Vol 2, London, Churchill Livingstone, 2002, pp 2624–2637.

    Google Scholar 

  32. Poulsen L, Horn N, Møller LB: X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion. Clin Genet 62:440–448, 2002.

    Article  CAS  PubMed  Google Scholar 

  33. Poulsen L, Horn N, Heilstrup H, et al.: X-linked recessive Menkes disease: identification of partial gene deletions in affected males. Clin Genet 62:449–457, 2002.

    Article  CAS  PubMed  Google Scholar 

  34. Peltonen L, Kuivaniemi H, Palotie A, et al.: Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome. Biochemistry 22:6156–6163, 1983.

    Article  CAS  PubMed  Google Scholar 

  35. Poulsen L, Horn N, Heilstrup H, et al.: X-linked recessive Menkes disease: identification of partial gene deletions in affected males. Clin Genet 62:449–457, 2002.

    Article  CAS  PubMed  Google Scholar 

  36. Poulsen L, Horn N, Møller LB: X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion. Clin Genet 62:440–448, 2002.

    Article  CAS  PubMed  Google Scholar 

  37. Proud V, Mussel H, Kaler S, et al.: Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype. Am J Med Genet 65:44–51, 1996.

    Article  CAS  PubMed  Google Scholar 

  38. Sarkar B: Early copper histidine therapy in classic Menkes disease. Ann Neurol 41:134–136, 1997.

    Article  CAS  PubMed  Google Scholar 

  39. Sarkar B, Lingertat-Walsh K, Clarke JT: Copper-histidine therapy for Menkes disease. J Pediatr 123:828–830, 1993.

    Article  CAS  PubMed  Google Scholar 

  40. Sander C, Niederhoff H, Horn N: Life span and Menkes kinky hair syndrome: report of a 13-year course of this disease. Clin Genet 33:228–233, 1998.

    Article  Google Scholar 

  41. Sugio Y, Kuwano A, Miyoshi O, et al.: Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease. Am J Med Genet 79:191–194, 1998.

    Article  CAS  PubMed  Google Scholar 

  42. Tommerup N, Tümer Z, Tønnesen T, et al.: A cytogenetic survey in Menkes disease: Implication for the detection of chromosomal rearrangements in X linked disorders. J Med Genet 30:314–315, 1993.

    CAS  PubMed  Google Scholar 

  43. Tønnesen T, Horn N: Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism. J Inher Metab Dis 12(Suppl 1):201–214, 1989.

    Google Scholar 

  44. Tønnesen T, Gerdes A, Damsgaard E, et al.: First-trimester diagnosis of Menkes disease: intermediate copper values in chronic villi from three affected male fetuses. Prenatal Diagn 9:159–165, 1989.

    Article  Google Scholar 

  45. Tønnesen T, Kleijer WJ, Horn N: Incidence of Menkes disease. Hum Genet 86:408–410, 1991.

    Article  PubMed  Google Scholar 

  46. Tümor Z: Genetics of Menkes disease. J Trace Elem Exp Med 11:147–161, 1998.

    Article  Google Scholar 

  47. Tümer Z, Horn N: Menkes disease: recent advances and new aspects. J Med Genet 34:265–274, 1997.

    Article  PubMed  Google Scholar 

  48. Tümor Z, Horn N: Menkes disease: Underlying genetic defect and new diagnostic possibilities. J Inher Metab Dis 21:604–612, 1998.

    Article  Google Scholar 

  49. Tümor Z, Chelly J, Tommerup N, et al.: Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease. Hum Mol Genet 1:483–489, 1992.

    Article  Google Scholar 

  50. Tümer Z, Tømmerup N, Tønnesen T, et al.: Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2. Hum Genet 88:668–672, 1992.

    Article  PubMed  Google Scholar 

  51. Tümer Z, Tonnesen T, Bohmann J, et al.: First trimester prenatal diagnosis of Menkes disease by DNA analysis. J Med Genet 31:615–617, 1994.

    PubMed  Google Scholar 

  52. Verga V, Hall BK, Wang S, et al.: Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2–q13.3 proximal to PGK-1. Am J Hum Genet 48:1133–1138, 1991.

    CAS  PubMed  Google Scholar 

  53. Vulpe C, Levinson B, Whitney S, et al.: Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet 3:7–13, 1993.

    Article  CAS  PubMed  Google Scholar 

  54. Westman J, Richardson D, Rennert O, et al.; Atypical Menkes steely hair disease. Am J Med Genet 30:853–858, 1988.

    Article  CAS  PubMed  Google Scholar 

  55. Williams DM, Atkin CL: Tissue copper concentrations of patients with Menke’s kinky hair disease. Am J Dis Child 135:375–376, 1981.

    CAS  PubMed  Google Scholar 

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© 2006 Humana Press Inc.

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(2006). Menkes Disease (Kinky-Hair Syndrome). In: Atlas of Genetic Diagnosis and Counseling. Humana Press. https://doi.org/10.1007/978-1-60327-161-5_122

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  • DOI: https://doi.org/10.1007/978-1-60327-161-5_122

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-681-8

  • Online ISBN: 978-1-60327-161-5

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