Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12147
Abstract: Multiple acyl‐CoA dehydrogenase deficiency (MADD) is an ultra‐rare inborn error of mitochondrial fatty acid oxidation (FAO) and amino acid metabolism. Individual phenotypes and treatment response can vary markedly. We aimed to identify markers that predict… read more here.
Keywords: madd ds3; disease severity; multiple acyl; acyl coa ... See more keywords
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
Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy
Sign Up to like & getrecommendations! Published in 2017 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2017.03.003
Abstract: Multiple acyl-CoA dehydrogenation deficiency is genetically heterogenous metabolic disease with mutations in genes involved in electron transfer to the mitochondrial respiratory chain. Disease symptoms vary from severe neonatal form to late-onset presentation with metabolic acidosis,… read more here.
Keywords: coa dehydrogenation; dehydrogenation deficiency; multiple acyl; acyl 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
Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.
Sign Up to like & getrecommendations! Published in 2019 at "Nutrition"
DOI: 10.1016/j.nut.2018.10.014
Abstract: OBJECTIVES Multiple acyl-CoA dehydrogenase deficiency (MADD) is the most severe disorder of mitochondrial fatty acid β-oxidation. Treatment of this disorder is difficult because the functional loss of the electron transfer flavoprotein makes energy supply from… read more here.
Keywords: term; long term; ketone; coa ... 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
A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genomics"
DOI: 10.1186/s12920-020-0665-6
Abstract: Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalence in the general population is… read more here.
Keywords: etfa gene; multiple acyl; case report;
Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.999596
Abstract: Objective To report a case of glycogen storage disease (GSD) type Ia misdiagnosed as multiple acyl-coenzyme a dehydrogenase deficiency (MADD) by mass spectrometry. Methods A 7 months old boy was admitted to our hospital for… read more here.
Keywords: multiple acyl; dehydrogenase; dehydrogenase deficiency; mass spectrometry ... See more keywords
Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Balkan Medical Journal"
DOI: 10.4274/balkanmedj.galenos.2022.2022-1-127
Abstract: Aims: To evaluate the clinical, pathological, and genetic features of patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD). Methods: Thirty-one patients with RR-MADD admitted to our hospital from January 2005 to November 2020 were enrolled,… read more here.
Keywords: multiple acyl; riboflavin responsive; coa dehydrogenase; patients riboflavin ... See more keywords