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单词 maple syrup urine disease
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maple syrup urine disease
maple syrup urine disease n. Medicine a metabolic disorder leading in its most severe form to psychomotor retardation and early death, in which the urine has a characteristic odour of maple syrup due to the presence of the amino acids leucine, isoleucine, and valine, and some of their metabolites.
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1954 J. H. Menkes et al. in Pediatrics 14 462 (heading) A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance... A characteristic feature of their illness was the passage of urine with an odor strikingly similar to that of maple syrup.]
1959 Brit. Med. Jrnl. 10 Jan. 90/1 (heading) Maple syrup urine disease.’ An inborn error of the metabolism of valine, leucine, and isoleucine associated with gross mental deficiency.
1977 Ann. Internal Med. 86 514/2 Advances in genetic knowledge..have led to screening methods and programs for newborns for an increasing number of treatable inherited diseases (for example, phenylketonuria, galactosemia, maple syrup urine disease).
1997 Time (Special Issue) Fall 31/2 Recognizing that the Old Order Amish and Mennonites (who suffer from a similar genetic disorder called maple syrup urine disease) could not reach major medical centers if their children became ill.
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