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单词 menkes
释义

Menkesn.

Brit. /ˈmɛŋkəz/, U.S. /ˈmɛŋkəz/
Origin: From a proper name. Etymon: proper name Menkes.
Etymology: < the name of John Hans Menkes (1928–2008), Austrian-born U.S. paediatric neurologist, novelist, and playwright.The syndrome referred to in sense 1 was first described by Menkes et al. in Pediatrics (1962) 29 764. Maple syrup urine disease (see sense 2) was described by Menkes et al. in Pediatrics (1954) 14 462.
Medicine.
1. attributive and in the genitive. Designating a genetic (X-linked recessive) disorder of copper transport that is characterized by retarded growth, progressive neurological degeneration, and hypopigmented kinky hair, and is generally fatal (if untreated) in infancy or early childhood; esp. in Menkes(') disease, Menkes syndrome. Also: of, relating to, or affected by this disorder.
ΚΠ
1967 Jrnl. Pediatrics 70 465/1 Menkes syndrome; peculiar hair and focal cerebral and cerebellar degeneration.
1976 Proc. National Acad. Sci. U.S.A. 73 604/2 The difference in copper concentration between Menkes and controls is characteristic for Menkes cells.
1986 Exper. Neurol. 91 640 The mouse mutant Mobr is an animal model of Menkes kinky hair syndrome with a similar defect in copper utilization.
1992 Human Genetics 88 668/1 The present finding supports the localization of the Menkes locus (MNK) to Xq13.
1993 Daily Tel. 2 Jan. 8/7 Menkes' disease, which affects only men, is due to a defective or missing gene.
2000 Biochemistry 39 6857 The cellular location of the Menkes ATPase, a key element in the control of intracellular copper.
2. In the genitive. Menkes' disease n. = maple syrup urine disease n. at maple n.1 Compounds 1c. Similarly Menkes' syndrome. rare.
ΘΚΠ
the world > health and disease > ill health > a disease > disorders of internal organs > metabolic disorders > [noun] > other metabolic disorders
xanthomatosis1900
Tay-Sachs1907
ketosis1917
protein shock1917
hyperinsulinism1924
Niemann–Pick1928
tyrosinosis1932
von Gierke's disease1933
phenylketonuria1935
cystic fibrosis1938
mucoviscidosis1945
cystinosis1949
oxalosis1952
McArdle1957
orotic aciduria1959
PKU1961
sphingolipidosis1962
Reye's syndrome1965
Menkes1969
1969 S. Jablonski Eponymic Syndromes & Dis. 206/2 Menkes' syndrome (2), an inborn error of leucine, isolencine, and valine metabolism associated with gross mental deficiency... The maple syrup odour of the urine is the principal diagnostic sign.
1992 Internat. Statistical Classification Dis. & Related Health Problems (W.H.O.) (10th rev.-ICD-10) III. Index 356/2 Menkes' disease or syndrome..meaning maple-syrup-urine disease.
This is a new entry (OED Third Edition, September 2001; most recently modified version published online March 2022).
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n.1967
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