Menkes syndrome
Zuletzt aktualisiert 7. Apr. 2021
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Menkes syndrome is a disorder that affects copper levels in the body. It is characterised by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.
Beschreibung
Menkes syndrome is a disorder that affects copper levels in the body. It is characterised by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia), sagging facial features, seizures, developmental delay, and intellectual disability. Children with Menkes syndrome typically begin to develop symptoms during infancy and often do not live past age 3. Early treatment with copper may improve the prognosis in some affected individuals. In rare cases, symptoms begin later in childhood.
Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe form of Menkes syndrome that begins in early to middle childhood. It is characterised by wedge-shaped calcium deposits in a bone at the base of the skull (the occipital bone), coarse hair, and loose skin and joints.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked recessive. More than one pattern can apply in different cases.
Related genes
Other names
Copper transport disease
Hypocupremia, congenital
Kinky hair syndrome
Menkea syndrome
Menkes disease
MK
MNK
Steely hair syndrome
X-linked copper deficiency
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Weiterführende Lektüre und Referenzen
- Menkes syndrome; MedlinePlus, National Library of Medicine.
- Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S. The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum. J Biol Chem. 2005 Mar 11;280(10):9640-5. doi: 10.1074/jbc.M413840200. Epub 2005 Jan 5.
- Bertini I, Rosato A. Menkes disease. Cell Mol Life Sci. 2008 Jan;65(1):89-91. doi: 10.1007/s00018-007-7439-6.
- de Bie P, Muller P, Wijmenga C, Klomp LW. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. J Med Genet. 2007 Nov;44(11):673-88. doi: 10.1136/jmg.2007.052746. Epub 2007 Aug 23.
- Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome. J Med Genet. 2007 Aug;44(8):492-7. doi: 10.1136/jmg.2007.050013. Epub 2007 May 11.
- Harris ED. Basic and clinical aspects of copper. Crit Rev Clin Lab Sci. 2003 Oct;40(5):547-86.
- Kaler SG, DiStasio AT. ATP7A-Related Copper Transport Disorders. 2003 May 9 [updated 2021 Apr 15]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1413/
- Kaler SG, Holmes CS, Goldstein DS, Tang J, Godwin SC, Donsante A, Liew CJ, Sato S, Patronas N. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. 2008 Feb 7;358(6):605-14. doi: 10.1056/NEJMoa070613.
- Lutsenko S, Washington-Hughes C, Ralle M, Schmidt K. Copper and the brain noradrenergic system. J Biol Inorg Chem. 2019 Dec;24(8):1179-1188. doi: 10.1007/s00775-019-01737-3. Epub 2019 Nov 5.
- Madsen E, Gitlin JD. Copper deficiency. Curr Opin Gastroenterol. 2007 Mar;23(2):187-92. doi: 10.1097/MOG.0b013e32801421bb.
- Menkes JH. Menkes disease and Wilson disease: two sides of the same copper coin. Part I: Menkes disease. Eur J Paediatr Neurol. 1999;3(4):147-58. doi: 10.1016/s1090-3798(99)90048-x. No abstract available.
- National Institute of Neurological Disorders and Stroke
- Prohaska JR. Role of copper transporters in copper homeostasis. Am J Clin Nutr. 2008 Sep;88(3):826S-9S. doi: 10.1093/ajcn/88.3.826S.
- Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG. Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet Med. 2006 Nov;8(11):711-8. doi: 10.1097/01.gim.0000245578.94312.1e.
- Voskoboinik I, Camakaris J. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. J Bioenerg Biomembr. 2002 Oct;34(5):363-71. doi: 10.1023/a:1021250003104.
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7. Apr. 2021 | Neueste Version
1 Mar 2009 | Ursprünglich veröffentlicht
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