二氢蝶啶还原酶缺乏症

定义 英文原文（暂无中文）

A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) recycling deficiency, leading to central dopamine and serotonin deficiency, clinically characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Some patients may present refractory neurological symptoms like a degree of developmental delay, epilepsy and brain abnormalities.

别名

二氢蝶啶还原酶缺乏所致高苯丙氨酸血症

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期、新生儿期

相关基因 1

临床表型 4

外部标识与链接