Medium-Chain Acyl-CoA Dehydrogenase Deficiency Latest Advances

Find the Latest Research About Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Last Updated: 04/28/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 135 publications

Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.

Clinical, Biochemical and Molecular Characterisation of Newborns With Fatty Acid β-Oxidation Disorders: Novel Variants in the ACADM , ACADVL and SLC22A5 Genes.

Journal: Clinical genetics

Published: August 22, 2025

Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges.

Medium-chain Acyl-CoA Dehydrogenase Deficiency Identified by MS/MS Newborn Screening Challenges.

Journal: Journal of mother and child

Published: July 18, 2025

Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype.

Tachycardiomyopathy-like presentation in neonatal MCAD deficiency: A novel cardiac phenotype.

Journal: European journal of medical genetics

Published: June 30, 2025

High-resolution native electrophoresis in-gel activity assay reveals biological insights of medium-chain fatty acyl-CoA dehydrogenase deficiency.

High-resolution native electrophoresis in-gel activity assay reveals biological insights of medium-chain fatty acyl-CoA dehydrogenase deficiency.

Journal: Scientific reports

Published: June 19, 2025

2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions.

2023 MCADD patient and family education summit with providers: meeting highlights, congruences and contradictions.

Journal: Orphanet journal of rare diseases

Published: June 18, 2025

Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD.

Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD.

Journal: Molecular genetics and metabolism

Published: May 14, 2025

Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis.

Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis.

Journal: Genetics research

Published: November 16, 2024

Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis.

Exploring Deleterious Nonsynonymous SNPs in the ACADM Gene: Insights Into Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) via In Silico Analysis.

Journal: Genetics research

Published: November 16, 2024

Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia - ten years experience.

Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia - ten years experience.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: November 08, 2024

Assessment of Fasting Metabolism With Microdialysis Indicates Earlier Lipolysis in Children With VLCADD Than MCADD.

Assessment of Fasting Metabolism With Microdialysis Indicates Earlier Lipolysis in Children With VLCADD Than MCADD.

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: June 19, 2024

iPSC-Derived Liver Organoids as a Tool to Study Medium Chain Acyl-CoA Dehydrogenase Deficiency.

iPSC-Derived Liver Organoids as a Tool to Study Medium Chain Acyl-CoA Dehydrogenase Deficiency.

Journal: Journal of inherited metabolic disease

Published: March 06, 2024

Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings.

Drug Resistant Epilepsy (DRE) Secondary to 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (HADH) in Siblings.

Journal: Indian journal of pediatrics

Published: October 24, 2023

Showing 1-12 of 135

Last Updated: 04/28/2026