A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.

ABSTRACT: Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from Africa. In a boy with features of a progressive central nervous system condition and adrenal failure, ABCD1 gene screening was performed based on a clinical history and basic radiological features which were compatible with ALD. A common ABCD1 mutation was identified in this patient, which is the first report of genetically confirmed ALD in Sub-Saharan Africa. ALD is likely under recognised in those areas where there is no neurologist. This genetic confirmation widens geographical distribution of ABCD1-associated disease, a

SUBMITTER: Dekker MCJ 

PROVIDER: S-EPMC7011349 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature