Журнал клинических случаев

A First Case of Adrenomyeloneuropathy with Mutation R152C: A Case Report with Literature Review

Abstract

Malek Mansour, Rania Ben Aoun, Maroua Melliti, Amel Kacem, Meriem Mselmani, Ridha Mrissa and Jamel Zaouali

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.