肾上腺脑白质营养不良
肾上腺功能不全
白质营养不良
医学
白质
内科学
病理
内分泌学
疾病
磁共振成像
过氧化物酶体
放射科
受体
作者
Juan Chemke,Ellin Lieberman,Rivka Carmi,Y Abarbanel,H Costeff,Y. Goldhammer,Moser Hw
出处
期刊:PubMed
日期:1984-12-01
卷期号:20 (12): 1123-32
被引量:2
摘要
Adrenoleukodystrophy (ALD) is a fatal X-linked recessive lipid storage disease characterized by progressive CNS demyelination and adrenal insufficiency. Adrenomyeloneuropathy (AMN) is a variant of ALD, with a later onset and more prolonged course, presenting as a peripheral myeloneuropathy. A wide spectrum of clinical manifestations exists in both forms of the ALD complex. Affected infants are clinically normal at birth and in early infancy. Progressive cerebral dysfunction and adrenal failure appear usually between 5 and 10 years of age. Brain white matter macrophages, adrenal cortical cells and other tissues contain characteristic cytoplasmic inclusions. The specific biochemical abnormality in the ALD complex is an accumulation of very long-chain fatty acids (VLCFA) in different tissues and plasma, mainly tetracosanoic (C24:0) and hexacosanoic (C26:0) acids. Metabolic studies have been consistent with an oxidative defect of VLCFA. Clinical, genetic and biochemical data are presented on the first six families with documented ALD in Israel. There appears to be no ethnic predilection. ALD and AMN are found concomitantly, and all clinical forms are present.
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