Clinical manifestations and treatment of Menkes disease and its variants

Pediatrics International

Volumn 41, Issue 4, 1999, Pages 423-429

  Kodama, Hiroko ^a   Murata, Yoshiko ^a   Kobayashi, Masaaki ^a  

^a TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Clinical features; Menkes disease; Occipital horn syndrome; Treatment

Indexed keywords

COPPER; COPPER ACETATE; EDETIC ACID;

CERULOPLASMIN BLOOD LEVEL; CLINICAL FEATURE; COPPER BLOOD LEVEL; COPPER DEFICIENCY; COPPER METABOLISM; DISEASE CLASSIFICATION; DISEASE SEVERITY; GENE MUTATION; HETEROZYGOTE DETECTION; HIGH RISK POPULATION; HUMAN; MENKES SYNDROME; NERVE DEGENERATION; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; REVIEW;

ANIMALS; CHILD; COPPER; EHLERS-DANLOS SYNDROME; HUMANS; INTESTINAL ABSORPTION; MENKES KINKY HAIR SYNDROME;

EID: 0032783060     PISSN: 13288067     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1442-200x.1999.01095.x     Document Type: Review

References (50)

1. 1 Menkes JH, Alter M, Steigleder GK, Weakley DR, Sung JH. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962; 29: 764-9.
2. 2 Danks DM, Campbell PE, Stevens BJ, Mayne V, Cartwright E. Menkes' kinky hair syndrome: An inherited defect in copper absorption with widespread effects. Pediatrics 1972; 50: 188-201.
3. 3 Danks DM. Disorders of copper transport. In: Scriver CR, Beaudet Al, Sly WS, Valle D (eds). The Metabolic and Molecular Basis of Inherited Disease. McGraw-Hill, New York, 1995; 2211-35.
4. 4 Kodama H. Genetic disorders of copper metabolism. In: Chang LW (ed.). Toxicology of Metals. CRC Press, Boca Raton, 1996; 371-86.
5. 5 Lazoff SG, Ryback JJ, Parker BR, Luzzatti L. Skeletal dysplasia, occipital horns, diarrhea and obstructive uropathy: A new hereditary syndrome. Birth Defects 1975; 11: 71-4.
6. 6 Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat. Genet. 1993; 3: 7-13.
7. 7 Chelly J, Tümer Z, Tønnesen T et al. Isolation of a candidate gene for Menkes disease which encodes a potential heavy metal binding protein. Nat. Genet. 1993; 3: 14-19.
8. 8 Mercer JFB, Livingston J, Hall B et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nat. Genet. 1993; 3: 20-5.
9. 9 Tønnesen T, Kleijer WL, Horn N. Incidence of Menkes disease. Hum. Genet. 1991; 86: 408-10.
10. 10 Kaler SG. Menkes disease. Adv. Pediatr. 1994; 41: 263-304.
11. 11 Kapur S, Higgins JV, Delp K, Rogers B. Menkes syndrome in a girl with X-autosome translocation. Am. J. Med. Genet. 1987; 26: 503-10.
12. 12 Tümer Z, Horn N. Menkes disease: Recent and new aspects. J. Med. Genet. 1997; 34: 265-74.
13. 13 Tsukahara M, Imaizumi K, Kawai S, Kajii T. Occipital horn syndrome: Report of a patient and review of the literature. Clin. Genet. 1994; 45: 32-5.
14. 14 Haga N, Nakamura S, Iwatani T. Type IX Ehlers-Danlos syndrome. Report of a case. East Jpn. J Clin. Orthop. 1993; 5: 177-82 (in Japanese).
15. 15 Wakai S, Ishikawa Y, Nagaoka M, Minami R, Hayakawa T. Occipital horn syndrome (Ehlers-Danlos syndrome type IX) with severe mental retardation and muscle atrophy. Rinsyo Sinkeigaku 1991; 31: 534-7 (in Japanese).
16. 16 Kaler SG, Westman JA, Bernes SM et al. Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease. J. Pediatr. 1993; 122: 93-5.
17. 17 Danks DM. The mild form of Menkes disease: Progress report on the original case. Am. J. Med. Genet. 1988; 30: 859-64.
18. 18 Gerdes AM, Tønnesen T, Pergament E et al. Variability in clinical expression of Menkes syndrome. Eur. J. Pediatr. 1988; 148: 132-5.
19. 19 Westman JA, Richardson DC, Rennert OM, Morrow G. Atypical Menkes steely hair disease. Am. J. Med. Genet. 1988; 30: 853-8.
20. 20 Danks DM. Disorders of copper transport: Menkes disease and the occipital horn syndrome. In: Royce PM, Steinmann B (eds). Connective Tissue and Its Heritable Disorders. Wiley-Liss, New York, 1993; 487-505.
21. 21 Herman TE, McAlister WH, Boniface A, Whyte MR Occipital horn syndrome - Additional radiographic findings in two new cases. Pediatr. Radiol 1992; 22: 363-5.
22. 22 Proud VK, Mussell HG, Kaler SG, Young DW, Percy AK. Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype. Am. J. Med. Genet. 1996; 65: 44-51.
23. 23 Kaler SG, Goldstein DS, Holmes C, Salerno JA, Gahl WA. Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. Ann. Neurol. 1993; 33: 171-5.
24. 24 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. 1994; 8: 195-202.
25. 25 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. 1996; 57: 37-46.
26. 26 Garnica AD, Frias JL, Rennert OM. Menkes kinky hair syndrome: Is it a treatable disorder? Clin. Genet. 1977; 11: 154-61.
27. 27 Kreuder J, Otten A, Fuder et al. Clinical and biochemical consequences of copper-histidine therapy in Menkes disease. Eur. J. Pediatr. 1993; 152: 828-32.
28. 28 Kodama H, Okabe I, Kihara A, Mori Y, Okaniwa M. Renal tubular function in four patients with Menkes disease. J. Inherit. Metab. Dis. 1992; 15: 157-8.
29. 29 Kodama H, Okabe I, Yanagisawa M, Kodama Y. Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome. J. Inherit. Metab. Dis. 1989; 12: 386-9.
30. 30 Gacheru S, McGee C, Uriu-Hare JY 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.
31. 31 Kuivaniemi H, Peltonen L, Palotie A, Kaitila I. Kivirikko KI. Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder. J. Clin. Invest. 1982; 69: 730-3.
32. 32 Peltonen L, Kuivaniemi H, Palotie A, Horn N, Kaitila I, Kivirikko KI. Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome. Biochem. 1983; 22: 6156-63.
33. 33 Friedman E, Harden A, Koivikko M, Pampiglione G. Menkes' disease: Neurophysiological aspects. J. Neurol. Neurosurg. Psychiatry 1978; 41: 505-10.
34. 34 White SR, Reese K, Sato S, Kaler SG. Spectrum of EEG findings in Menkes disease. Electroencephalogr. Clin. Neurophysiol. 1993; 87: 57-61.
35. 35 Das S, Levinson B, Whitney S, Vulpe C, Packman S. Diverse mutations in patients with Menkes disease often lead to exon skipping. Am. J. Hum. Genet. 1994; 55: 883-9.
36. 36 Tümer Z., Lund C, Tolshave J, Vural B, Tønnesen T, Horn N. Identification of point mutations in 41 unrelated patients affected with Menkes disease. Am. J. Hum. Genet. 1997; 60: 63-71.
37. 37 Tønnesen T, Gerdes AM, Damsgaard E et al. First-trimester diagnosis of Menkes disease: Intermediate copper values in chorionic villi from three affected male fetuses. Prenat. Diagn. 1989; 9: 159-65.
38. 38 Tümer Z., Tønnesen T, Böhmann J, Marg W, Horn N. First trimester prenatal diagnosis of Menkes disease by DNA analysis. J. Med. Genet. 1994; 31: 615-7.
39. 67copper uptake. J. Inorg. Biochem. 1990; 40: 8-93.
40. 40 Kaler SG. Menkes disease. Adv. Pediatr. 1994; 41: 263-304.
41. 41 Sarkar B, Lingertat-Walsh K, Clarke JTR. Copper-histidine therapy for Menkes disease. J. Pediatr. 1993; 123: 828-30.
42. 42 Tümer Z, Horn N, Tønnesen T, Christodoulou J, Clarke JTR, Sarkar B. Early copper-histidine treatment for Menkes disease. Nat. Genet. 1996; 12: 11-3.
43. 43 Kalar SG, Buist NRM, Holmes CS, Goldstein DS, Miller RC, Gahl WA. Early copper therapy in classic Menkes disease patients with a novel splicing mutation. Ann. Neurol. 1995; 38: 921-8.
44. 44 Sarkar B. Early copper histidine therapy in classic Menkes disease. Ann. Neurol. 1997; 41: 134.
45. 45 Sherwood G, Sarkar B, Sass-Kortsak A. Copper histidinate therapy in Menkes' disease: Prevention of progressive neurodegeneration. J. Inherit. Metab. Dis. 1989; 12: 393-6.
46. 46 Nadal D, Baerlocher K. Menkes' disease: Long term treatment with copper and D-penicillamine. Eur. J. Pediatr. 1988; 147: 621-5.
47. 47 Tada K, Tanaka M, Inada E, Koga K, Arimoto K, Matsuo T. A patient with Menkes disease effecting treatment with tocopherol acetate. No Hattatsu 1988; 20: 514-16 (in Japanese).
48. 48 Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am. J. Hum. Genet. 1995; 56: 570-6.
49. 49 Reed V, Boyd Y. Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease. Hum. Mol. Genet. 1997; 6: 417-23.
50. 50 Murata Y, Kodama H, Abe T et al. Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. Pediatr. Res. 1997; 42: 436-42.