疾病条目id

DI-00076

基因病名称(英)

Alpha-methylacyl-CoA racemase deficiency

基因病名称

α-甲基酰基辅酶A消旋酶缺乏症

关键字(英)

关键字

别名(英)

AMACR deficiency

别名

AMACR 缺乏症

统计

reviewed:1; annotated:0

交叉引用

614307,C1858325,C3280428,D018901

助记符

AMACRD

描述(英)

A rare autosomal recessive peroxisomal disorder characterized by elevated plasma concentrations of pristanic acid C27-bile-acid intermediates, and adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging.

描述

一种罕见的常染色体隐性过氧化物酶体疾病，其特征是血浆中的鱼腥草酸 C27-胆汁酸中间体浓度升高，成人会出现影响中枢和周围神经系统的可变神经退行性症状。特征可能包括癫痫发作、视觉衰竭、感觉运动神经病变、痉挛、偏头痛和脑成像白质高信号。