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Fatty Acid Beta-Oxidation Disorders: A Brief Review
BACKGROUND: Mitochondrial fatty acid β-oxidation disorders (FAODs) are a heterogeneous group of defects in fatty acid transport and mitochondrial β-oxidation. They are inherited as autosomal recessive disorders and have a wide range of clinical presentations. SUMMARY: The background information and...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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S. Karger AG
2016
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4934411/ https://www.ncbi.nlm.nih.gov/pubmed/27536022 http://dx.doi.org/10.1159/000443556 |
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author | Vishwanath, Vijay A. |
author_facet | Vishwanath, Vijay A. |
author_sort | Vishwanath, Vijay A. |
collection | PubMed |
description | BACKGROUND: Mitochondrial fatty acid β-oxidation disorders (FAODs) are a heterogeneous group of defects in fatty acid transport and mitochondrial β-oxidation. They are inherited as autosomal recessive disorders and have a wide range of clinical presentations. SUMMARY: The background information and case report provide important insight into mitochondrial FAODs. The article provides a wealth of information describing the scope of these disorders. KEY MESSAGES: This article presents a typical case of medium chain acyl-CoA dehydrogenase deficiency and summarizes the pathophysiology, clinical presentation, diagnosis and treatment of mitochondrial FAODs. |
format | Online Article Text |
id | pubmed-4934411 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-49344112016-08-17 Fatty Acid Beta-Oxidation Disorders: A Brief Review Vishwanath, Vijay A. Ann Neurosci Mini Review BACKGROUND: Mitochondrial fatty acid β-oxidation disorders (FAODs) are a heterogeneous group of defects in fatty acid transport and mitochondrial β-oxidation. They are inherited as autosomal recessive disorders and have a wide range of clinical presentations. SUMMARY: The background information and case report provide important insight into mitochondrial FAODs. The article provides a wealth of information describing the scope of these disorders. KEY MESSAGES: This article presents a typical case of medium chain acyl-CoA dehydrogenase deficiency and summarizes the pathophysiology, clinical presentation, diagnosis and treatment of mitochondrial FAODs. S. Karger AG 2016-03 2016-03-11 /pmc/articles/PMC4934411/ /pubmed/27536022 http://dx.doi.org/10.1159/000443556 Text en Copyright © 2016 by S. Karger AG, Basel |
spellingShingle | Mini Review Vishwanath, Vijay A. Fatty Acid Beta-Oxidation Disorders: A Brief Review |
title | Fatty Acid Beta-Oxidation Disorders: A Brief Review |
title_full | Fatty Acid Beta-Oxidation Disorders: A Brief Review |
title_fullStr | Fatty Acid Beta-Oxidation Disorders: A Brief Review |
title_full_unstemmed | Fatty Acid Beta-Oxidation Disorders: A Brief Review |
title_short | Fatty Acid Beta-Oxidation Disorders: A Brief Review |
title_sort | fatty acid beta-oxidation disorders: a brief review |
topic | Mini Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4934411/ https://www.ncbi.nlm.nih.gov/pubmed/27536022 http://dx.doi.org/10.1159/000443556 |
work_keys_str_mv | AT vishwanathvijaya fattyacidbetaoxidationdisordersabriefreview |