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单词 phenylketonuria
释义
phen·yl·ke·to·nu·ri·a (fĕnəl-kētn-rē-ə, -yr-, fēnəl-)
n. Abbr. PKU
A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine to tyrosine. Left untreated, the disorder can cause brain damage and progressive intellectual disability as a result of the accumulation of phenylalanine and its breakdown products.

[phenylketone, the class of organic compounds including phenylpyruvic acid, a breakdown product of phenylalanine that is abnormally abundant in the urine of those having the disorder (PHENYL + KETONE) + UR(O)-1 + -IA1.]

phenyl·keto·nuric adj. & n.
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