M. Mansour, R. Aoun, Maroua Melliti, A. Kacem, Meriem Mselmani, R. Mrissa, J. Zaouali
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引用次数: 0
摘要
x -连锁肾上腺脑白质营养不良(X-ALD)是一种罕见的遗传性疾病，引起长链脂肪酸(VLCFAs)积聚在中枢神经系统、肾上腺皮质和睾丸。已经确定了各种突变，X-ALD突变数据库编目了2707个(最后更新于2019年3月4日)，其中61%的错义突变。本文报道首例AMN伴有ABCD1基因R152C突变。
A First Case of Adrenomyeloneuropathy with Mutation R152C: A Case Report with Literature Review
X-linked Adrenoleukodystrophy (X-ALD) is a rare genetic disorder responsible of accumulation of Very Long Chain Fatty Acids (VLCFAs) which accumulate in the central nervous system, adrenal cortex and testes. Various mutations have been identified, the X-ALD mutation database catalogs 2707 (last updated on 04-03-2019) with 61% of missense mutations. This paper reports on a first case of AMN with R152C mutation in ABCD1 gene.
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