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Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in EFTA, EFTB, or ETFDH. Many MADD patients are responsive to treatment with riboflavin, termed riboflavin-responsive MADD (RR-MADD). Here, we re...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031868/ https://www.ncbi.nlm.nih.gov/pubmed/29988809 http://dx.doi.org/10.1016/j.ymgmr.2018.05.007 |
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author | Fan, Xin Xie, Bobo Zou, Jun Luo, Jingsi Qin, Zailong D'Gama, Alissa M. Shi, Jiahai Yi, Shang Yang, Qi Wang, Jin Luo, Shiyu Chen, Shaoke Agrawal, Pankaj B. Li, Qifei Shen, Yiping |
author_facet | Fan, Xin Xie, Bobo Zou, Jun Luo, Jingsi Qin, Zailong D'Gama, Alissa M. Shi, Jiahai Yi, Shang Yang, Qi Wang, Jin Luo, Shiyu Chen, Shaoke Agrawal, Pankaj B. Li, Qifei Shen, Yiping |
author_sort | Fan, Xin |
collection | PubMed |
description | Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in EFTA, EFTB, or ETFDH. Many MADD patients are responsive to treatment with riboflavin, termed riboflavin-responsive MADD (RR-MADD). Here, we report three novel mutations and one previously reported mutation in ETFDH in four RR-MADD patients who presented at various ages, and characterize the corresponding changes in ETF-QO protein structure. Clinicians should consider MADD in the differential diagnosis when patients present with muscle weakness and biochemical abnormalities. Gene testing plays a critical role in confirming the diagnosis of MADD, and may not only prevent patients from invasive testing, but also allow timely initiation of riboflavin treatment. The novel variants in ETFDH and the corresponding clinical features reported here enrich the allelic heterogeneity of RR-MADD and provide insight into genotype-phenotype relationships. |
format | Online Article Text |
id | pubmed-6031868 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-60318682018-07-09 Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency Fan, Xin Xie, Bobo Zou, Jun Luo, Jingsi Qin, Zailong D'Gama, Alissa M. Shi, Jiahai Yi, Shang Yang, Qi Wang, Jin Luo, Shiyu Chen, Shaoke Agrawal, Pankaj B. Li, Qifei Shen, Yiping Mol Genet Metab Rep Research Paper Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in EFTA, EFTB, or ETFDH. Many MADD patients are responsive to treatment with riboflavin, termed riboflavin-responsive MADD (RR-MADD). Here, we report three novel mutations and one previously reported mutation in ETFDH in four RR-MADD patients who presented at various ages, and characterize the corresponding changes in ETF-QO protein structure. Clinicians should consider MADD in the differential diagnosis when patients present with muscle weakness and biochemical abnormalities. Gene testing plays a critical role in confirming the diagnosis of MADD, and may not only prevent patients from invasive testing, but also allow timely initiation of riboflavin treatment. The novel variants in ETFDH and the corresponding clinical features reported here enrich the allelic heterogeneity of RR-MADD and provide insight into genotype-phenotype relationships. Elsevier 2018-06-11 /pmc/articles/PMC6031868/ /pubmed/29988809 http://dx.doi.org/10.1016/j.ymgmr.2018.05.007 Text en © 2018 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Research Paper Fan, Xin Xie, Bobo Zou, Jun Luo, Jingsi Qin, Zailong D'Gama, Alissa M. Shi, Jiahai Yi, Shang Yang, Qi Wang, Jin Luo, Shiyu Chen, Shaoke Agrawal, Pankaj B. Li, Qifei Shen, Yiping Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency |
title | Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency |
title_full | Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency |
title_fullStr | Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency |
title_full_unstemmed | Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency |
title_short | Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency |
title_sort | novel etfdh mutations in four cases of riboflavin responsive multiple acyl-coa dehydrogenase deficiency |
topic | Research Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6031868/ https://www.ncbi.nlm.nih.gov/pubmed/29988809 http://dx.doi.org/10.1016/j.ymgmr.2018.05.007 |
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