Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium‐chain acyl‐coenzyme A dehydrogenase deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Epilepsia Open"
DOI: 10.1002/epi4.12630
Abstract: We describe a case of epileptic encephalopathy in a young woman with undiagnosed medium‐chain acyl‐coenzyme A dehydrogenase deficiency (MCADD), who presented with an early‐onset focal motor status epilepticus (SE) then followed by permanent left hemiplegia… read more here.
Keywords: young woman; etiology; acyl coenzyme; chain acyl ... See more keywords
Mouse long-chain Acyl-CoA synthetase 1 is active as a monomer.
Sign Up to like & getrecommendations! Published in 2021 at "Archives of biochemistry and biophysics"
DOI: 10.1016/j.abb.2021.108773
Abstract: Fatty acids are essential cellular building blocks and a major energy source. Regardless of their metabolic fate, fatty acids first need to be activated by forming a thioester with a coenzyme A group. This reaction… read more here.
Keywords: active monomer; acyl coa; long chain; coa ... See more keywords
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
Sign Up to like & getrecommendations! Published in 2022 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2022.03.009
Abstract: Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency has been a target of expanded newborn screening (ENBS) using tandem mass spectrometry in Japan. Since the implementation of ENBS, a number of novel ACADVL variants responsible for VLCAD… read more here.
Keywords: chain acyl; deficiency; enbs group; long chain ... See more keywords
Engineered Production of Short-Chain Acyl-Coenzyme A Esters in Saccharomyces cerevisiae.
Sign Up to like & getrecommendations! Published in 2018 at "ACS synthetic biology"
DOI: 10.1021/acssynbio.7b00466
Abstract: Short-chain acyl-coenzyme A esters serve as intermediate compounds in fatty acid biosynthesis, and the production of polyketides, biopolymers and other value-added chemicals. S. cerevisiae is a model organism that has been utilized for the biosynthesis of… read more here.
Keywords: production; acyl coenzyme; short chain; coa ... See more keywords
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers
Sign Up to like & getrecommendations! Published in 2019 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddy403
Abstract: Abstract Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is the most common defect of mitochondrial long-chain fatty acid β-oxidation. Patients present with heterogeneous clinical phenotypes affecting heart, liver and skeletal muscle predominantly. The full pathophysiology of… read more here.
Keywords: coa dehydrogenase; chain; acyl coa; long chain ... See more keywords
Short-chain acyl-CoA dehydrogenase is a potential target for the treatment of vascular remodelling.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of hypertension"
DOI: 10.1097/hjh.0000000000003399
Abstract: OBJECTIVES Short-chain acyl-CoA dehydrogenase (SCAD), a key enzyme in the fatty acid oxidation process, is not only involved in ATP synthesis but also regulates the production of mitochondrial reactive oxygen species (ROS) and nitric oxide… read more here.
Keywords: scad expression; chain acyl; vascular remodelling; short chain ... See more keywords
VERY LONG‐CHAIN ACYL‐COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2‐DAY‐OLD INFANT
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.15241
Abstract: Dr Mei Ikenori 1 Dr Nobuyuki Yotani Dr Masaki Yamada Dr Ken-Ichi Imadome Dr Isao Miyairi Dr Akira Ishiguro Departments of Center for Postgraduate Education and Training, General Pediatrics and Interdisciplinary Medicine, Advanced Medicine for… read more here.
Keywords: coa dehydrogenase; medicine; dehydrogenase deficiency; acyl coa ... See more keywords
A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Medical Case Reports"
DOI: 10.1186/s13256-021-03013-y
Abstract: Background Very long-chain acyl-coenzyme-A dehydrogenase deficiency is a rare, severe life-threatening metabolic disorder of mitochondrial fatty acid oxidation, caused by mutations in ACADVL gene. Here we present a genetically confirmed case of a South Asian… read more here.
Keywords: acyl coenzyme; dehydrogenase deficiency; case; long chain ... See more keywords
Diabetes Mellitus Type 1 in Patient with Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
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DOI: 10.2337/db18-2342-pub
Abstract: Introduction: Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inborn error of fatty acid oxidation requiring carbohydrate (CHO) to avoid disabling encephalopathy with non-ketotic hypoglycemia. We report diagnosis and management of T1DM in an MCADD… read more here.
Keywords: mcadd; hypoglycemia; medium chain; t1dm ... See more keywords
Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00802
Abstract: Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) is an autosomal recessive disorder of impaired isoleucine catabolism caused by mutations in the ACADSB gene. There are limited SBCADD cases worldwide and to date no Chinese patients with… read more here.
Keywords: acyl coa; branched chain; chinese patients; chain acyl ... See more keywords
Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.895921
Abstract: Introduction Short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD) is an inherited disorder of L-isoleucine metabolism due to mutations in the ACADSB gene. The role of current diagnostic biomarkers [i.e., blood 2-methylbutyrylcarnitine (C5) and urine 2-methylbutyrylglycine (2MBG)] in… read more here.
Keywords: branched chain; dehydrogenase deficiency; short branched; coa dehydrogenase ... See more keywords