Zobrazeno 1 - 10
of 1 358
pro vyhledávání: '"Acyl-CoA dehydrogenase deficiency"'
Autor:
Filippo Ingoglia, Mohsen Tanfous, Benjamin Ellezam, Katherine J. Anderson, Marzia Pasquali, Lorenzo D. Botto
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101142- (2024)
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a primary mitochondrial dysfunction affecting mitochondrial fatty acid and protein metabolism, caused by biallelic pathogenic variants in ETFA, ETFB, or ETFDH genes. The heterogeneous phenotypes as
Externí odkaz:
https://doaj.org/article/13712aa79f9049628045d3f7e554c0c8
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: The biochemical and genetic characteristics of four very-long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD) patients, clarifying their pathogenic genetic factors and evaluating the application value of genetic diagnosis in the e
Externí odkaz:
https://doaj.org/article/c69c10fbbde54187b1d22a6059abe833
Autor:
Jing Ma, Huiqiu Zhang, Feng Liang, Guanxi Li, Xiaomin Pang, Rongjuan Zhao, Juan Wang, Xueli Chang, Junhong Guo, Wei Zhang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. There are sex differences in fat metabolism and it is not known whether late-onset MADD affects men and women equally. Methods
Externí odkaz:
https://doaj.org/article/e5d62e719d9147039f14c655786ee196
Autor:
Mohammad Reza Seyedtaghia, Reza Jafarzadeh‐Esfehani, Seyedmojtaba Hosseini, Sepehr Kobravi, Mahdis Hakkaki, Yalda Nilipour
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)
Abstract Background Glutaric aciduria type II (GA2) is a rare genetic disorder inherited in an autosomal recessive manner. Double dosage mutations in GA2 corresponding genes, ETFDH, ETFA, and ETFB, lead to defects in the catabolism of fatty acids, an
Externí odkaz:
https://doaj.org/article/16917a6275de436e9d731ff61530fd2a
Autor:
Michelle Bisschoff, Izelle Smuts, Marli Dercksen, Maryke Schoonen, Barend C. Vorster, George van der Watt, Careni Spencer, Kireshnee Naidu, Franclo Henning, Surita Meldau, Robert McFarland, Robert W. Taylor, Krutik Patel, Mahmoud R. Fassad, Jana Vandrovcova, The ICGNMD Consortium, Ronald J. A. Wanders, Francois H. van der Westhuizen
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder resulting from pathogenic variants in three distinct genes, with most of the variants occurring in the electron transfer flavoprotein-ubiquinone
Externí odkaz:
https://doaj.org/article/4f97c609fc144737ad690173a33bc63e
Autor:
Maha Alotaibi, Amal Alqasmi, Faisal Albassam, Turki Alkahtani, Muath Alqahtany, Mohammed Alkhaldi
Publikováno v:
Global Medical Genetics, Vol 10, Iss 04, Pp 278-281 (2023)
One of the most common inborn errors in fatty acid β oxidation (FAO) is a very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. It is autosomal recessive. The enzyme used in the first phase of FAO is VLCAD. The enzyme is responsible for
Externí odkaz:
https://doaj.org/article/6fc6d2f83fe640e2b95c2fdcfcfb8138
Publikováno v:
Xiehe Yixue Zazhi, Vol 14, Iss 5, Pp 1096-1100 (2023)
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, an autosomal recessive inherited disease, can be classified into three types. Type 3 VLCAD deficiency, also named as delayed intermittent myopathy, is the most common type, which can be manif
Externí odkaz:
https://doaj.org/article/bfe0ee55f93c4f329a30b071a3948083
Autor:
Christoff Odendaal, Emmalie A. Jager, Anne-Claire M. F. Martines, Marcel A. Vieira-Lara, Nicolette C. A. Huijkman, Ligia A. Kiyuna, Albert Gerding, Justina C. Wolters, Rebecca Heiner-Fokkema, Karen van Eunen, Terry G. J. Derks, Barbara M. Bakker
Publikováno v:
BMC Biology, Vol 21, Iss 1, Pp 1-22 (2023)
Abstract Background Monogenetic inborn errors of metabolism cause a wide phenotypic heterogeneity that may even differ between family members carrying the same genetic variant. Computational modelling of metabolic networks may identify putative sourc
Externí odkaz:
https://doaj.org/article/c317aa533e824a27ae9be54b9fd0b3e9
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 12 (2024)
Abstract Medium chain acyl-coA dehydrogenase deficiency (MCADD), the most common fatty acid oxidation disorder, has been regarded as a relatively benign condition with low risk of mortality in patients with a known diagnosis, if adequate caloric inta
Externí odkaz:
https://doaj.org/article/00c713dfb94a4fc4acb1bb3ec1614cba
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101061- (2024)
Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited metabolic disorder caused by biallelic pathogenic variants in genes related to the flavoprotein complex. Dysfunction of the complex leads to impaired fatty acid oxidation a
Externí odkaz:
https://doaj.org/article/ff61a9a08e0c4a268871d79d6aabfe25