| Menkes disease | |
|---|---|
| Other names | Trichopoliodystrophy, copper transport disease, steely hair disease, kinky hair disease |
 | |
| Child with Menkes disease, showing characteristic hair | |
| Specialty | Pediatrics, Medical Genetics |
| Causes | Mutations in genes coding for the copper-transport protein ATP7A |
| Frequency | 1 in 254,000 (Europe) 1 in 357,143 (Japan) |
Menkes disease (MNK), also known as Menkes syndrome,[1][2] is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A,[3] leading to copper deficiency.[4][5] Characteristic findings include kinky hair, growth failure, and nervous system deterioration. Like all X-linked recessive conditions, Menkes disease is more common in males than in females. The disorder was first described by John Hans Menkes in 1962.[6]
Onset occurs during infancy, with incidence of about 1 in 100,000 to 250,000 newborns; affected infants often do not live past the age of three years, though there are rare cases in which less severe symptoms emerge later in childhood.[7]
- ^ Online Mendelian Inheritance in Man (OMIM): 309400
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 765. ISBN 978-0-7216-2921-6.
- ^ "Menkes syndrome" at Dorland's Medical Dictionary
- ^ Rensing, Christopher; McDevitt, Sylvia Franke (2013). "The Copper Metallome in Prokaryotic Cells". Metallomics and the Cell. Metal Ions in Life Sciences. Vol. 12. pp. 417–450. doi:10.1007/978-94-007-5561-1_12. ISBN 978-94-007-5560-4.
- ^ de Bie P, Muller P, Wijmenga C, Klomp LW (Nov 2007). "Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes". J. Med. Genet. 44 (11): 673–688. doi:10.1136/jmg.2007.052746. PMC 2752173. PMID 17717039.
- ^ Menkes JH, Alter M, Steigleder GK, Weakley DR, Sung JH (1962). "A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration". Pediatrics. 29: 764–779. PMID 14472668.
- ^ "Research Overview". themenkesfoundation.org. Archived from the original on 2017-02-12. Retrieved 2015-12-10.