phenylalanine hydroxylase deficiency 中文意思是什麼
phenylalanine hydroxylase deficiency
解釋
苯丙氨酸羥化酶缺乏癥,苯丙酮尿癥,苯丙氨酸羥化酶缺乏- phenylalanine : n. 【化學】苯基丙胺酸。
- hydroxylase : 氫氧酶
- deficiency : n. 1. 缺乏，不足，短缺。2. 缺陷。3. 不足額；虧空。
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Phenylketonuria ( pku ) is an inherited metabolic disease that results in mental retardation and other neurological problems when treatment is not started within the first few weeks of life. the disease arises from the deficiency of a single enzyme, phenylalanine hydroxylase, which converts the essential amino acid, phenylalanine, to another amino acid, tyrosine. failure of the conversion to take place results in a buildup of phenylalanine in the body that then damages the central nervous system
苯丙酮尿癥（ pku ）是一種智力發育不全的先天性疾病，患者由於肝贓內苯丙氨酸羥化酶缺乏，苯丙氨酸不能正常代謝為酪氨酸，從而導致苯丙氨酸在肌體組織內積累，引起腦損傷和累進性精神障礙，臨床表現為智力低下，頭發顏色轉黃，尿有異臭味，重者似鼠臭。
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