单词 | menkes |
释义 | Menkesn. 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). < n.1967 |
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