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, and illustrates recognisability of this disorder, even when encountered in a low-resource environment.

Ocular findings and genomics of X-linked recessive disorders: A review

“…[ 13 14 ] Accumulation of very-long-chain fatty acids (VLCFAs) in plasma and tissues due to impairments in ABCD1 contributes to the demyelinating pathology and cerebral neuropathy in X-ALD. [ 15 16 17 18 ]…”

Inauguration of the Tanzania Society of Human Genetics: Biomedical Research in Tanzania with Emphasis on Human Genetics and Genomics

“…32 In previous studies conducted by his team, more than eight case reports have been published since 2012, four of which investigated syndromes, two skeletal dysplasias, and two neurological disorders. [33][34][35][36][37][38][39][40] The presentation highlighted the need to improve diagnostic skills and therefore the importance of reporting such rare genetic disorders.…”

Advancing genetic testing for neurological disorders in Tanzania: importance, challenges, and strategies for implementation

“…Outside of selected published case reports and anecdotal experiences, Tanzanian neurogenetics is largely missing from the global neurogenetic landscape. Published cases include Becker muscular dystrophy ( Dekker et al, 2019 ), Huntington’s disease ( Scrimgeour, 1981 ), Motor neuron disease ( Dekker et al, 2018 ), Parkinson’s disease ( Dekker et al, 2020 ), Carpenter syndrome ( Lodhia et al, 2021 ), Adrenoleukodystrophy ( Dekker et al, 2019 ), Paroxysmal kinesigenic dyskinesia ( Dekker et al, 2020 ), Freeman-Sheldon syndrome ( Ali et al, 2017 ), Cornelia de Lange Syndrome ( Mende et al, 2012 ), Ataxia-Telangiectasia ( van Os et al, 2020 ), and Nodding syndrome ( Amaral et al, 2023 ). It is important to note that all of the above ascertained in Tanzania with molecular confirmation done overseas.…”