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A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations

Leigh syndrome (also called Leigh disease or subacute necrotizing encephalomyelopathy) is a rare inherited neurometabolic disorder, which affects the central nervous system. This meta-study systematically analyzed clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutatio...

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Autores principales: Chang, Xueli, Wu, Yaxin, Zhou, Jie, Meng, Huaxing, Zhang, Wei, Guo, Junhong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004636/
https://www.ncbi.nlm.nih.gov/pubmed/32000367
http://dx.doi.org/10.1097/MD.0000000000018634
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author Chang, Xueli
Wu, Yaxin
Zhou, Jie
Meng, Huaxing
Zhang, Wei
Guo, Junhong
author_facet Chang, Xueli
Wu, Yaxin
Zhou, Jie
Meng, Huaxing
Zhang, Wei
Guo, Junhong
author_sort Chang, Xueli
collection PubMed
description Leigh syndrome (also called Leigh disease or subacute necrotizing encephalomyelopathy) is a rare inherited neurometabolic disorder, which affects the central nervous system. This meta-study systematically analyzed clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations. Literature was searched for publications in MEDLINE, EMBASE, and the China National Knowledge Infrastructure database for meta-analyses of the incidence of clinical symptoms, laboratory assessments, imaging data, muscle biopsy histochemical staining, activity of the mitochondrial respiratory chain enzyme complex, gene mutations, and the association between age at disease onset and type of gene mutations. This study included 5 studies with 385 Leigh syndrome patients. The most common clinical features of Leigh syndrome included elevated blood and/or cerebrospinal fluid (CSF) levels of lactate (72%), developmental retardation (57%), hypotonia (42%), followed by respiratory dysfunction (34%), epileptic seizures (33%), poor feeding (29%), and weakness (27%). Approximately 80% of the patients had deficiencies of the respiratory chain enzyme complex or isolated complex I deficiency (35%), 32% had mitochondrial DNA (mtDNA) mutations, and 38% had nuclear DNA (nDNA) mutations. Patients with nDNA mutations were younger than those with mtDNA mutations (8.82 ± 13.88 vs 26.20 ± 41.11 years, P = .007). The data from the current meta-analysis demonstrated a variety of clinical and molecular manifestations of Leigh syndrome, with upregulated lactate levels in the blood or CSF being the most common feature. Diagnosis of Leigh syndrome could be confirmed using combined enzymatic and genetic analyses.
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spelling pubmed-70046362020-02-18 A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations Chang, Xueli Wu, Yaxin Zhou, Jie Meng, Huaxing Zhang, Wei Guo, Junhong Medicine (Baltimore) 5300 Leigh syndrome (also called Leigh disease or subacute necrotizing encephalomyelopathy) is a rare inherited neurometabolic disorder, which affects the central nervous system. This meta-study systematically analyzed clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations. Literature was searched for publications in MEDLINE, EMBASE, and the China National Knowledge Infrastructure database for meta-analyses of the incidence of clinical symptoms, laboratory assessments, imaging data, muscle biopsy histochemical staining, activity of the mitochondrial respiratory chain enzyme complex, gene mutations, and the association between age at disease onset and type of gene mutations. This study included 5 studies with 385 Leigh syndrome patients. The most common clinical features of Leigh syndrome included elevated blood and/or cerebrospinal fluid (CSF) levels of lactate (72%), developmental retardation (57%), hypotonia (42%), followed by respiratory dysfunction (34%), epileptic seizures (33%), poor feeding (29%), and weakness (27%). Approximately 80% of the patients had deficiencies of the respiratory chain enzyme complex or isolated complex I deficiency (35%), 32% had mitochondrial DNA (mtDNA) mutations, and 38% had nuclear DNA (nDNA) mutations. Patients with nDNA mutations were younger than those with mtDNA mutations (8.82 ± 13.88 vs 26.20 ± 41.11 years, P = .007). The data from the current meta-analysis demonstrated a variety of clinical and molecular manifestations of Leigh syndrome, with upregulated lactate levels in the blood or CSF being the most common feature. Diagnosis of Leigh syndrome could be confirmed using combined enzymatic and genetic analyses. Wolters Kluwer Health 2020-01-31 /pmc/articles/PMC7004636/ /pubmed/32000367 http://dx.doi.org/10.1097/MD.0000000000018634 Text en Copyright © 2020 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0
spellingShingle 5300
Chang, Xueli
Wu, Yaxin
Zhou, Jie
Meng, Huaxing
Zhang, Wei
Guo, Junhong
A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations
title A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations
title_full A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations
title_fullStr A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations
title_full_unstemmed A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations
title_short A meta-analysis and systematic review of Leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations
title_sort meta-analysis and systematic review of leigh syndrome: clinical manifestations, respiratory chain enzyme complex deficiency, and gene mutations
topic 5300
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004636/
https://www.ncbi.nlm.nih.gov/pubmed/32000367
http://dx.doi.org/10.1097/MD.0000000000018634
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