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Management of X-linked adrenoleukodystrophy in Morocco: actual situation

OBJECTIVES: X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of the first program of diagnosis, treatment, a...

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Autores principales: Benjelloun, F. Z. Madani, Kriouile, Y., Cheillan, D., Daoud-Tetouani, H., Chabraoui, L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678772/
https://www.ncbi.nlm.nih.gov/pubmed/29116030
http://dx.doi.org/10.1186/s13104-017-2902-4
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author Benjelloun, F. Z. Madani
Kriouile, Y.
Cheillan, D.
Daoud-Tetouani, H.
Chabraoui, L.
author_facet Benjelloun, F. Z. Madani
Kriouile, Y.
Cheillan, D.
Daoud-Tetouani, H.
Chabraoui, L.
author_sort Benjelloun, F. Z. Madani
collection PubMed
description OBJECTIVES: X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of the first program of diagnosis, treatment, and follow-up of this disease in Morocco. RESULTS: We developed three protocols of X-linked Adrenoleukodystrophy management: general protocol, asymptomatic protocol, and heterozygous protocol. Over a period of 5 years, we recruited eight families with 16 patients. Clinically, the presentation is primary adrenal insufficiency and behavioral changes. All patients had elevated levels of very long fatty acids. This is the first study of X-linked adrenoleukodystrophy in Morocco. It shows the importance of this metabolic disease and broadens perspectives in terms of its diagnosis and its treatment.
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spelling pubmed-56787722017-11-17 Management of X-linked adrenoleukodystrophy in Morocco: actual situation Benjelloun, F. Z. Madani Kriouile, Y. Cheillan, D. Daoud-Tetouani, H. Chabraoui, L. BMC Res Notes Research Note OBJECTIVES: X-linked adrenoleukodystrophy is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy and childhood cerebral Adrenoleukodystrophy are the most common phenotypes. This paper focuses on a descriptive study of the first program of diagnosis, treatment, and follow-up of this disease in Morocco. RESULTS: We developed three protocols of X-linked Adrenoleukodystrophy management: general protocol, asymptomatic protocol, and heterozygous protocol. Over a period of 5 years, we recruited eight families with 16 patients. Clinically, the presentation is primary adrenal insufficiency and behavioral changes. All patients had elevated levels of very long fatty acids. This is the first study of X-linked adrenoleukodystrophy in Morocco. It shows the importance of this metabolic disease and broadens perspectives in terms of its diagnosis and its treatment. BioMed Central 2017-11-07 /pmc/articles/PMC5678772/ /pubmed/29116030 http://dx.doi.org/10.1186/s13104-017-2902-4 Text en © The Author(s) 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Note
Benjelloun, F. Z. Madani
Kriouile, Y.
Cheillan, D.
Daoud-Tetouani, H.
Chabraoui, L.
Management of X-linked adrenoleukodystrophy in Morocco: actual situation
title Management of X-linked adrenoleukodystrophy in Morocco: actual situation
title_full Management of X-linked adrenoleukodystrophy in Morocco: actual situation
title_fullStr Management of X-linked adrenoleukodystrophy in Morocco: actual situation
title_full_unstemmed Management of X-linked adrenoleukodystrophy in Morocco: actual situation
title_short Management of X-linked adrenoleukodystrophy in Morocco: actual situation
title_sort management of x-linked adrenoleukodystrophy in morocco: actual situation
topic Research Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5678772/
https://www.ncbi.nlm.nih.gov/pubmed/29116030
http://dx.doi.org/10.1186/s13104-017-2902-4
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