1. A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.
- Author
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Dekker, M. C. J., Sadiq, A. M., Mc Larty, R., Mbwasi, R. M., Willemsen, M. A. A. P., Waterham, H. R., and Hamel, B. C.
- Subjects
ADRENOLEUKODYSTROPHY ,MEDICAL geography ,PEROXISOMAL disorders - 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, and illustrates recognisability of this disorder, even when encountered in a low-resource environment. [ABSTRACT FROM AUTHOR]
- Published
- 2019
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