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单词 tyrosinæmia
释义 tyrosinæmia Med.|taɪrəsɪˈniːmɪə|
Also (chiefly U.S.) -emia.
[f. prec. + Gr. αἷµα blood + -ia1.]
Any of several conditions marked by the presence in blood and urine of abnormally high amounts of tyrosine.
1965J. Gentz et al. in Jrnl. Pediatrics LXVI. 670/1 Tyrosinemia as defined in the present report is a disorder characterized biochemically by a continuous high urinary excretion of tyrosine and tyrosyl compounds and a high plasma tyrosine level, while the concentrations of other amino acids are normal or rather low.1982T. I. Diamondstone in T. M. Devlin Textbk. Biochem. xii. 589 Transient tyrosinemia of the newborn appears to be due to delayed development of tyrosine transaminase and/or p-hydroxyphenylpyruvate oxidase... Persistent tyrosinemia without liver or kidney disease has been reported in six patients, all of whom are retarded.1983Oxf. Textbk. Med. I. ix. 94/1 A single metabolic lesion to explain all the findings has not yet been identified, and it has been argued that Type I tyrosinaemia is not in fact primarily a disorder of tyrosine metabolism.
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