丝氨酸生物合成途径缺乏，婴儿/青少年型

定义 英文原文（暂无中文）

A rare inborn error of metabolism comprising 3-phosphoglycerate dehydrogenase deficiency, 3-phosphoserine phosphatase deficiency, and phosphoserine aminotransferase deficiency, and characterized by a phenotypic spectrum ranging from congenital microcephaly, psychomotor retardation, and intractable seizures in the infantile forms to milder juvenile forms with moderate developmental delay and intellectual disability.

基本事实

发病年龄

产前、婴儿期、新生儿期

患病率

<1 / 1 000 000

外部标识与链接