inherited metabolic diseases meaning in English
遗传代谢性疾病相关基因克隆进展
Examples
- Hypophosphatasia is a rare inherited metabolic disease characterized by rickets with reduced plasma and tissue alkaline phosphatase activity
摘要先天性磷酸酶缺乏症为一少见之代谢性疾病，其主要特徵为血清及组识之硷性磷酸酶下降以及佝偻症。 - Most of these inherited metabolic diseases are not curable . however , prenatal diagnosis and genetic analysis will enable early diagnosis and treatment in this group of patients
大部份生化遗传病是不可能完全治愈的，但产前诊断及遗传因子检查可以及早发现病源，为病人提供适合的治疗。 - 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
苯丙酮尿症（ pku ）是一种智力发育不全的先天性疾病，患者由于肝赃内苯丙氨酸羟化酶缺乏，苯丙氨酸不能正常代谢为酪氨酸，从而导致苯丙氨酸在肌体组织内积累，引起脑损伤和累进性精神障碍，临床表现为智力低下,头发颜色转黄，尿有异臭味，重者似鼠臭。