Mitochondrial Trifunctional Protein Deficiency Latest Advances

The Hidden Metabolic Threat: A Case of Fatty Acid Oxidation Disorder Masquerading as Viral Myocarditis.

Journal: Cureus

Published: October 13, 2025

Characterizing Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase Deficiency (LCHADD) Chorioretinopathy Using OCT and OCTA.

Journal: Investigative ophthalmology & visual science

Published: September 24, 2025

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

Journal: Journal of child neurology

Published: August 18, 2025

A pharmacological profile of triheptanoin for the treatment of long-chain fatty acid oxidation disorders.

Journal: Expert review of clinical pharmacology

Published: July 09, 2025

LCHADD-associated chorioretinopathy (case study)

Journal: Vestnik oftalmologii

Published: July 01, 2025

Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts.

Journal: Journal of inherited metabolic disease

Published: May 14, 2025

Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot-Marie-Tooth Disease.

Journal: Journal of the peripheral nervous system : JPNS

Published: May 11, 2025

Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).

Journal: Journal of inherited metabolic disease

Published: March 24, 2025

Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up.

Journal: Archivos de la Sociedad Espanola de Oftalmologia

Published: January 09, 2025

Triheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.

Journal: Cardiology in the young

Published: January 09, 2025

iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector.

Journal: Investigative ophthalmology & visual science

Published: September 16, 2024

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Journal: JIMD reports

Published: July 14, 2024

Mitochondrial Trifunctional Protein Deficiency Latest Advances

Find the Latest Research About Mitochondrial Trifunctional Protein Deficiency

The Hidden Metabolic Threat: A Case of Fatty Acid Oxidation Disorder Masquerading as Viral Myocarditis.

The Hidden Metabolic Threat: A Case of Fatty Acid Oxidation Disorder Masquerading as Viral Myocarditis.

Characterizing Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase Deficiency (LCHADD) Chorioretinopathy Using OCT and OCTA.

Characterizing Long-Chain 3-Hydroxy-Acyl-CoA Dehydrogenase Deficiency (LCHADD) Chorioretinopathy Using OCT and OCTA.

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

Early-Onset Sensorimotor Axonal Neuropathy as Sole Manifestation of HADHA-Related Disorder/ Mitochondrial Trifunctional Protein Defect.

A pharmacological profile of triheptanoin for the treatment of long-chain fatty acid oxidation disorders.

A pharmacological profile of triheptanoin for the treatment of long-chain fatty acid oxidation disorders.

LCHADD-associated chorioretinopathy (case study)

LCHADD-associated chorioretinopathy (case study)

Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts.

Elamipretide Improves Mitochondrial Function in Mitochondrial Trifunctional Protein-Deficient Mice and Human Fibroblasts.

Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot-Marie-Tooth Disease.

Mitochondrial Trifunctional Protein Deficiency due to HADHA Variants Masquerading as Charcot-Marie-Tooth Disease.

Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).

Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD).

Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up.

Pigmentary chorioretinopathy due to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): a case report with long-term follow-up.

Triheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.

Triheptanoin use for severe neonatal cardiomyopathy secondary to mitochondrial trifunctional protein deficiency: a first report.

iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector.

iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector.

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.

Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.