Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Latest Advances

Whole genome sequencing reveals diagnosis in a 12-month-old child with elevated creatinine kinase, pseudohypertriglyceridemia, and a complex phenotype.

Journal: Laboratory medicine

Published: April 11, 2026

Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from Canada.

Journal: Molecular genetics and metabolism

Published: January 08, 2026

Restoration of Interaction Between Fatty Acid Oxidation and Electron Transport Chain Proteins In Vitro by Addition of Recombinant VLCAD.

Journal: Biomedicines

Published: November 28, 2025

Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.

Journal: Molecular genetics and metabolism

Published: July 17, 2025

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Journal: Journal of inherited metabolic disease

Published: July 15, 2025

Perioperative Management of a Patient With Very Long Chain Acyl-CoA Dehydrogenase Deficiency Undergoing Laparoscopic Sleeve Gastrectomy: First Report of Bariatric Surgery in VLCADD.

Journal: Obesity surgery

Published: June 30, 2025

A Case of Adult-Onset VLCAD Deficiency.

Journal: Journal of clinical neuromuscular disease

Published: June 13, 2025

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

Journal: Molecular genetics and metabolism

Published: May 16, 2025

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

Journal: Genes

Published: April 10, 2025

Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.

Journal: Molecular genetics & genomic medicine

Published: March 27, 2025

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.

Journal: Journal of inherited metabolic disease

Published: March 22, 2025

Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature Review.

Journal: Lipids

Published: February 27, 2025

Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency Latest Advances

Find the Latest Research About Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency

Whole genome sequencing reveals diagnosis in a 12-month-old child with elevated creatinine kinase, pseudohypertriglyceridemia, and a complex phenotype.

Whole genome sequencing reveals diagnosis in a 12-month-old child with elevated creatinine kinase, pseudohypertriglyceridemia, and a complex phenotype.

Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from Canada.

Development and validation of a clinical severity score for long-chain fatty acid oxidation disorders using Real-World-Evidence from Canada.

Restoration of Interaction Between Fatty Acid Oxidation and Electron Transport Chain Proteins In Vitro by Addition of Recombinant VLCAD.

Restoration of Interaction Between Fatty Acid Oxidation and Electron Transport Chain Proteins In Vitro by Addition of Recombinant VLCAD.

Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.

Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes.

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.

Perioperative Management of a Patient With Very Long Chain Acyl-CoA Dehydrogenase Deficiency Undergoing Laparoscopic Sleeve Gastrectomy: First Report of Bariatric Surgery in VLCADD.

Perioperative Management of a Patient With Very Long Chain Acyl-CoA Dehydrogenase Deficiency Undergoing Laparoscopic Sleeve Gastrectomy: First Report of Bariatric Surgery in VLCADD.

A Case of Adult-Onset VLCAD Deficiency.

A Case of Adult-Onset VLCAD Deficiency.

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

ACADVL Deep Sequencing in a Case Study: Beyond the Common c.848T>C Pathogenic Variant.

Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.

Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders.

Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature Review.

Long-Chain Fatty Acid Beta-Oxidation Defects: A Case Series and Literature Review.