A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy
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 ce...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2019/6148425 |
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| author | M. C. J. Dekker A. M. Sadiq R. Mc Larty R. M. Mbwasi M. A. A. P. Willemsen H. R. Waterham B. C. Hamel |
| author_facet | M. C. J. Dekker A. M. Sadiq R. Mc Larty R. M. Mbwasi M. A. A. P. Willemsen H. R. Waterham B. C. Hamel |
| author_sort | M. C. J. Dekker |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-10af2e8b1c1b4ed188eed8f1a5affa66 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-10af2e8b1c1b4ed188eed8f1a5affa662025-02-03T01:10:12ZengWileyCase Reports in Genetics2090-65442090-65522019-01-01201910.1155/2019/61484256148425A Tanzanian Boy with Molecularly Confirmed X-Linked AdrenoleukodystrophyM. C. J. Dekker0A. M. Sadiq1R. Mc Larty2R. M. Mbwasi3M. A. A. P. Willemsen4H. R. Waterham5B. C. Hamel6Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, TanzaniaDepartment of Radiology, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, TanzaniaDepartment of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, TanzaniaDepartment of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, TanzaniaDepartment of Pediatrics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, NetherlandsLaboratory Genetic Metabolic Diseases, Amsterdam UMC—Location AMC, University of Amsterdam, Amsterdam, NetherlandsDepartment of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, NetherlandsAdrenoleukodystrophy (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.http://dx.doi.org/10.1155/2019/6148425 |
| spellingShingle | M. C. J. Dekker A. M. Sadiq R. Mc Larty R. M. Mbwasi M. A. A. P. Willemsen H. R. Waterham B. C. Hamel A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy Case Reports in Genetics |
| title | A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy |
| title_full | A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy |
| title_fullStr | A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy |
| title_full_unstemmed | A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy |
| title_short | A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy |
| title_sort | tanzanian boy with molecularly confirmed x linked adrenoleukodystrophy |
| url | http://dx.doi.org/10.1155/2019/6148425 |
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