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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
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.
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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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