Enantiomer‐specific pharmacokinetics of D,L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12365
Abstract: D,L‐3‐hydroxybutyrate (D,L‐3‐HB, a ketone body) treatment has been described in several inborn errors of metabolism, including multiple acyl‐CoA dehydrogenase deficiency (MADD; glutaric aciduria type II). We aimed to improve the understanding of enantiomer‐specific pharmacokinetics of… read more here.
Keywords: coa dehydrogenase; specific pharmacokinetics; acyl coa; enantiomer specific ... See more keywords
Comment on: “Multiple acyl‑CoA dehydrogenase deficiency in elderly carriers”
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neurology"
DOI: 10.1007/s00415-020-09752-0
Abstract: We read the paper “Multiple acyl‐CoA dehydrogenase defi‐ ciency [MADD] in elderly carriers” by Macchione et al. with great interest, where they describe two elderly individuals, each with only one heterozygous variant in ETFDH gene… read more here.
Keywords: coa dehydrogenase; variant; elderly carriers; acyl coa ... See more keywords
Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues
Sign Up to like & getrecommendations! Published in 2017 at "Neuroscience"
DOI: 10.1016/j.neuroscience.2016.10.049
Abstract: Glutaryl-CoA dehydrogenase (GCDH) is a mitochondrial enzyme that is involved in the degradation of tryptophan, lysine and hydroxylysine. Deficient enzyme activity leads to glutaric aciduria type-I (GA-I). This neurometabolic disease usually manifests with acute encephalopathic… read more here.
Keywords: coa dehydrogenase; gcdh; adult; glutaryl coa ... See more keywords
Infant with early onset bilateral facial and bulbar weakness: Successful treatment of riboflavin in multiple acyl-CoA dehydrogenase deficiency caused by biallelic nonsense FLAD1 variants
Sign Up to like & getrecommendations! Published in 2021 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.07.006
Abstract: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a heterogeneous group of inborn error of metabolic disease affecting the oxidation of fatty acids and amino acids, and choline metabolism. Genes involved in electrons transfer to the mitochondrial… read more here.
Keywords: dehydrogenase deficiency; flad1; acyl coa; coa dehydrogenase ... See more keywords
Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenase Deficiency Associated with Hepatoencephalomyopathy and White Matter Signal Abnormalities on Brain MRI.
Sign Up to like & getrecommendations! Published in 2017 at "Neuropediatrics"
DOI: 10.1055/s-0037-1601447
Abstract: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting both fatty acid and amino acid oxidation. It can manifest at any age, but riboflavin-responsiveness has mainly been described in less severely… read more here.
Keywords: coa dehydrogenase; dehydrogenase; dehydrogenase deficiency; acyl coa ... See more keywords
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Physiology and Biochemistry"
DOI: 10.1080/13813455.2019.1628065
Abstract: Abstract Mitochondrial fatty acid β-oxidation disorders (FAOD) are among the diseases detected by newborn screening in most developed countries. Alterations of mitochondrial functionality are characteristic of these metabolic disorders. However, many questions remain to be… read more here.
Keywords: coa dehydrogenase; dehydrogenase deficiency; acyl coa; related phenotype ... 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
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 (S)-3-Hydroxybutyrate Dehydrogenase Belonging to the 3-Hydroxyacyl-CoA Dehydrogenase Family Facilitates Hydroxyacid Degradation in Anaerobic Bacteria
Sign Up to like & getrecommendations! Published in 2023 at "Applied and Environmental Microbiology"
DOI: 10.1128/aem.00366-23
Abstract: (R)-3-hydroxybutyrate is well studied as a component of ketone bodies produced by the liver and of bacterial polyesters. However, the biochemistry of its enantiomer (S)-3-hydroxybutyrate is poorly understood. ABSTRACT Ketone bodies, including acetoacetate, 3-hydroxybutyrate, and… read more here.
Keywords: dehydrogenase; anaerobic bacteria; coa dehydrogenase; hydroxybutyrate ... See more keywords
New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2019.00811
Abstract: Some success in identifying acyl-CoA dehydrogenase (ACAD) deficiencies before they are symptomatic has been achieved through tandem mass spectrometry. However, there has been several challenges that need to be confronted, including excess false positives, the… read more here.
Keywords: coa dehydrogenase; c14; new ratios; acyl coa ... See more keywords
Acetogenic production of 3-Hydroxybutyrate using a native 3-Hydroxybutyryl-CoA Dehydrogenase
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Microbiology"
DOI: 10.3389/fmicb.2022.948369
Abstract: 3-Hydroxybutyrate (3HB) is a product of interest as it is a precursor to the commercially produced bioplastic polyhydroxybutyrate. It can also serve as a platform for fine chemicals, medicines, and biofuels, making it a value-added… read more here.
Keywords: coa dehydrogenase; production; native hydroxybutyryl; hydroxybutyrate ... See more keywords