芳香族 L-氨基酸脱羧酶缺乏症
基因病名称(英)
Aromatic L-amino-acid decarboxylase deficiency
别名(英)
Aromatic-L-amino-acid decarboxylase deficiency,DDC deficiency,DOPA decarboxylase deficiency
别名
芳香族L-氨基酸脱羧酶缺乏症、DDC缺乏症、多巴脱羧酶缺乏症
统计
reviewed:1; annotated:0
交叉引用
608643,C1291564,D000592
描述(英)
An inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. It causes developmental and psychomotor delay, poor feeding, lethargy, ptosis, intermittent hypothermia, gastrointestinal disturbances. The onset is early in infancy and inheritance is autosomal recessive.
描述
神经递质代谢的先天性错误导致血清素和儿茶酚胺联合缺乏。它会导致发育和精神运动延迟、喂养不良、嗜睡、上睑下垂、间歇性低温、胃肠道紊乱。发病早在婴儿期，遗传是常染色体隐性遗传。