Menkes Kinky Hair Disease: Multimedia

References

1. Datta AK, Ghosh T, Nayak K, Ghosh M. Menkes kinky hair disease: A case report. Cases J. Sep 18 2008;1(1):158. [Medline].

2. Aldecoa V, Escofet-Soteras C, Artuch R, Ormazabal A, Gabau-Vila E, Martin-Martinez C. [Menkes disease: its clinical, biochemical and molecular diagnosis]. Rev Neurol. Apr 1-15 2008;46(7):446-7. [Medline].

3. Danks DM, Campbell PE, Walker-Smith J, et al. Menkes' kinky-hair syndrome. Lancet. May 20 1972;1(7760):1100-2. [Medline].

4. Danks DM, Cartwright E, Stevens BJ, Townley RR. Menkes' kinky hair disease: further definition of the defect in copper transport. Science. Mar 16 1973;179(78):1140-2. [Medline].

5. Menkes JHM, Alter M, Steigleder GK. A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebellar degeneration. Pediatrics. 1962;29:764-769.

6. Chelly J, Tumer Z, Tonnesen T, et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet. Jan 1993;3(1):14-9. [Medline].

7. Baerlocher K, Nadal D. [Menkes syndrome]. Ergeb Inn Med Kinderheilkd. 1988;57:77-144. [Medline].

8. Kaler SG. Menkes disease. Adv Pediatr. 1994;41:263-304. [Medline].

9. Kaler SG, Tang J, Donsante A, Kaneski CR. Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease. Ann Neurol. Jan 2009;65(1):108-13. [Medline].

10. Sato R, Okutani K, Higashi T, Satou M, Fujimoto K, Okazaki K. [Case report : respiratory care for anesthesia in a patient with Menkes syndrome and micrognathia]. Masui. Jan 2009;58(1):103-5. [Medline].

11. Passariello M, Almenrader N, Pietropaoli P. Anesthesia for a child with Menkes disease. Paediatr Anaesth. Dec 2008;18(12):1225-6. [Medline].

12. Yamashita J, Yamakage M, Kawana S, Namiki A. Two cases of Menkes disease: airway management and dental fragility. Anaesth Intensive Care. Mar 2009;37(2):332-3. [Medline].

13. [Guideline] Cunniff C. Prenatal screening and diagnosis for pediatricians. Pediatrics. Sep 2004;114(3):889-94. [Medline].

14. Amaravadi R, Glerum DM, Tzagoloff A. Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment. Hum Genet. Mar 1997;99(3):329-33. [Medline].

15. Bennetts HW, Chapman FE. Copper deficiency in sheep in Western Australia: a preliminary account of the aetiology of enzootic ataxia of lambs and an anemia of ewes. Aust Vet J. 1937;13:138-49.

16. Camakaris J, Voskoboinik I, Mercer JF. Molecular mechanisms of copper homeostasis. Biochem Biophys Res Commun. Aug 2 1999;261(2):225-32. [Medline].

17. Francis MJ, Jones EE, Levy ER, et al. A Golgi localization signal identified in the Menkes recombinant protein. Hum Mol Genet. Aug 1998;7(8):1245-52. [Medline].

18. Grange DK, Kaler SG, Albers GM, et al. Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease. Am J Med Genet A. Dec 1 2005;139(2):151-5. [Medline].

19. Guitet M, Campistol J, Medina M. [Menkes disease: experience in copper salts therapy]. Rev Neurol. Jul 16-31 1999;29(2):127-30. [Medline].

20. Kaler SG. Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency. Am J Clin Nutr. May 1998;67(5 Suppl):1029S-1034S. [Medline].

21. Kaler SG. Menkes disease mutations and response to early copper histidine treatment. Nat Genet. May 1996;13(1):21-2. [Medline].

22. Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. Jan-Feb 1998;1(1):85-98. [Medline].

23. Kaler SG, Buist NR, Holmes CS, et al. Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Ann Neurol. Dec 1995;38(6):921-8. [Medline].

24. Kaler SG, Das S, Levinson B, et al. Successful early copper therapy in menkes disease associated with a mutant transcript containing a small In-frame deletion. Biochem Mol Med. Feb 1996;57(1):37-46. [Medline].

25. Kaler SG, Gahl WA, Berry SA, et al. Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease. J Inherit Metab Dis. 1993;16(5):907-8. [Medline].

26. Kaler SG, Gallo LK, Proud VK, et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet. Oct 1994;8(2):195-202. [Medline].

27. Kaler SG, Goldstein DS, Holmes C, et al. Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. Ann Neurol. Feb 1993;33(2):171-5. [Medline].

28. Kaler SG, Schwartz JP. Expression of the Menkes disease homolog in rodent neuroglial cells. Neurosci Res Commun. 1998;23:61-66.

29. Kaler SG, Tumer Z. Prenatal diagnosis of Menkes disease. Prenat Diagn. Mar 1998;18(3):287-9. [Medline].

30. Klomp LW, Lin SJ, Yuan DS et al. Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis. J Biol Chem. Apr 4 1997;272(14):9221-6. [Medline].

31. Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int. Aug 1999;41(4):423-9. [Medline].

32. La Fontaine SL, Firth SD, Camakaris J, et al. Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases. J Biol Chem. Nov 20 1998;273(47):31375-80. [Medline].

33. Levinson B, Conant R, Schnur R, et al. A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Hum Mol Genet. Nov 1996;5(11):1737-42. [Medline].

34. Mercer JF, Livingston J, Hall B, et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat Genet. Jan 1993;3(1):20-5. [Medline].

35. Moller LB, Tumer Z, Lund C, et al. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet. Apr 2000;66(4):1211-20. [Medline].

36. Payne AS, Gitlin JD. Functional expression of the menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases. J Biol Chem. Feb 6 1998;273(6):3765-70. [Medline].

37. Petris MJ, Mercer JF. The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal. Hum Mol Genet. Oct 1999;8(11):2107-15. [Medline].

38. Petris MJ, Mercer JF, Camakaris J. The cell biology of the Menkes disease protein. Adv Exp Med Biol. 1999;448:53-66. [Medline].

39. Petris MJ, Strausak D, Mercer JF. The Menkes copper transporter is required for the activation of tyrosinase. Hum Mol Genet. Nov 22 2000;9(19):2845-51. [Medline].

40. Prohaska JR, Tamura T, Percy AK, Turnlund JR. In vitro copper stimulation of plasma peptidylglycine alpha-amidating monooxygenase in Menkes disease variant with occipital horns. Pediatr Res. Dec 1997;42(6):862-5. [Medline].

41. Pufahl RA, Singer CP, Peariso KL, et al. Metal ion chaperone function of the soluble Cu(I) receptor Atx1. Science. Oct 31 1997;278(5339):853-6. [Medline].

42. Robertson D, Goldberg MR, Onrot J, et al. Isolated failure of autonomic noradrenergic neurotransmission. Evidence for impaired beta-hydroxylation of dopamine. N Engl J Med. Jun 5 1986;314(23):1494-7. [Medline].

43. Sarkar B, Lingertat-Walsh K, Clarke JT. Copper-histidine therapy for Menkes disease. J Pediatr. Nov 1993;123(5):828-30. [Medline].

44. Schaefer M, Gitlin JD. Genetic disorders of membrane transport. IV. Wilson's disease and Menkes disease. Am J Physiol. Feb 1999;276(2 Pt 1):G311-4. [Medline].

45. Sheela SR, Latha M, Liu P, et al. Copper-replacement treatment for symptomatic Menkes disease: ethical considerations. Clin Genet. Sep 2005;68(3):278-83. [Medline].

46. Suzuki M, Gitlin JD. Intracellular localization of the Menkes and Wilson's disease proteins and their role in intracellular copper transport. Pediatr Int. Aug 1999;41(4):436-42. [Medline].

47. Tumer Z, Horn N, Tonnesen T, et al. Early copper-histidine treatment for Menkes disease. Nat Genet. Jan 1996;12(1):11-3. [Medline].

48. Tumer Z, Lund C, Tolshave J, et al. Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am J Hum Genet. Jan 1997;60(1):63-71. [Medline].

49. Tumer Z, Moller LB, Horn N. Mutation spectrum of ATP7A, the gene defective in Menkes disease. Adv Exp Med Biol. 1999;448:83-95. [Medline].

50. Valentine JS, Gralla EB. Delivering copper inside yeast and human cells. Science. Oct 31 1997;278(5339):817-8. [Medline].

51. Voskoboinik I, Strausak D, Greenough M, et al. Functional analysis of the N-terminal CXXC metal-binding motifs in the human menkes copper-transporting P-type ATPase expressed in cultured mammalian cells. J Biol Chem. Jul 30 1999;274(31):22008-12. [Medline].

52. 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. Nat Genet. Jan 1993;3(1):7-13. [Medline].

Further Reading

• Relevant clinical trials include the following:
  • Copper Histidine Therapy for Menkes Diseases
  • Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency
• Related eMedicine topics
  • Menkes Kinky Hair Disease
  • Menkes Disease
  • Ehlers-Danlos Syndrome
  • Trichorrhexis Nodosa

Keywords

Menkes kinky hair disease, Menkes' kinky hair disease, MKHD, copper transport disorder, kinky-hair disease, KHS, kinky hair syndrome, kinky-hair syndrome, MKHS, Menkes syndrome, OHS, occipital horn syndrome, trichopoliodystrophy, KHD, multiple sclerosis, MS, Ehlers-Danlos syndrome, copper deficiency, pectus excavatum, hypoglycemia, retinal hypopigmentation, vessel tortuosity, macular dystrophy, congenital cataracts, partial optic nerve atrophy, pneumonia, respiratory failure, umbilical hernia, jaundice, hypothermia, treatment, diagnosis

Contributor Information and Disclosures

Author

Stephen G Kaler, MD, MPH, Head, Unit On Pediatric Genetics, Laboratory of Clinical Genomics, and Clinical Director, Intramural Research Program, National Institute of Child Health & Human Development (NICHD), National Institutes of Health
Disclosure: Nothing to disclose.

Medical Editor

Christian J Renner, MD, Consulting Staff, Department of Pediatrics, University Hospital for Children and Adolescents, Erlangen, Germany
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Margaret M McGovern, MD, PhD, Professor and Chair of Pediatrics, Stony Brook University, New York
Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Genzyme Grant/research funds PI

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.