肾上腺脑白质营养不良
基因病名称(英)
Adrenoleukodystrophy
别名(英)
Addison disease and cerebral sclerosis,Adrenomyeloneuropathy,AMN,Bronze Schilder disease,Melanodermic leukodystrophy,Siemerling-Creutzfeldt disease
别名
Addison 病和脑硬化、肾上腺脊髓神经病、AMN、Bronze Schilder 病、黑皮病脑白质营养不良、Siemerling-Creutzfeldt 病
统计
reviewed:1; annotated:0
交叉引用
300100,C0162309,C1527231,C2931920,D000326
描述(英)
A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype.
描述
一种以中枢神经系统进行性多灶性脱髓鞘和外周肾上腺功能不全（艾迪生病）为特征的过氧化物酶体代谢疾病。它会导致精神衰退、皮质脊髓束功能障碍和皮质盲。存在不同的临床表现，例如：脑儿童 ALD (CALD)、成人脑 ALD (ACALD)、肾上腺脊髓神经病 (AMN) 和“仅艾迪生病” (ADO) 表型。