Pyruvate Decarboxylase Deficiency Latest Advances

Find the Latest Research About Pyruvate Decarboxylase Deficiency

Last Updated: 09/26/2026

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Found 516 publications

Dichloroacetate improves animal survival, growth, neuromuscular activity, mitochondrial stress and physiology, and elevated lactate in C. elegans pdha-1 and dld-1 RNAi models of pyruvate dehydrogenase complex deficiency (PDCD).

Dichloroacetate improves animal survival, growth, neuromuscular activity, mitochondrial stress and physiology, and elevated lactate in C. elegans pdha-1 and dld-1 RNAi models of pyruvate dehydrogenase complex deficiency (PDCD).

Journal: bioRxiv : the preprint server for biology

Published: July 17, 2026

Animal models of pyruvate dehydrogenase complex deficiency: insight into mechanisms of cerebral abnormalities and tissue-specific role in metabolism.

Animal models of pyruvate dehydrogenase complex deficiency: insight into mechanisms of cerebral abnormalities and tissue-specific role in metabolism.

Journal: Frontiers in medicine

Published: April 20, 2026

A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.

A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.

Journal: Neurology

Published: April 14, 2026

Ketogenic diet therapy in pyruvate dehydrogenase deficiency: Global clinical practice from literature and survey data.

Ketogenic diet therapy in pyruvate dehydrogenase deficiency: Global clinical practice from literature and survey data.

Journal: Molecular genetics and metabolism

Published: April 03, 2026

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency.

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency.

Journal: Annals of clinical and translational neurology

Published: March 25, 2026

Primary Pyruvate Dehydrogenase Complex Deficiency Mimicking Cytomegalovirus Foetopathy on Prenatal Brain Imaging: A Case Report - An Alternative Diagnosis to Consider when Faced with Negative Infectious Work-Up.

Primary Pyruvate Dehydrogenase Complex Deficiency Mimicking Cytomegalovirus Foetopathy on Prenatal Brain Imaging: A Case Report - An Alternative Diagnosis to Consider when Faced with Negative Infectious Work-Up.

Journal: Fetal diagnosis and therapy

Published: March 23, 2026

Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series.

Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series.

Journal: International journal of molecular sciences

Published: January 13, 2026

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

Journal: Journal of child neurology

Published: December 23, 2025

Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects.

Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects.

Journal: Antioxidants (Basel, Switzerland)

Published: October 23, 2025

Case Report: Neonatal heart failure: a rare presentation of congenital left ventricular aneurysm.

Case Report: Neonatal heart failure: a rare presentation of congenital left ventricular aneurysm.

Journal: Frontiers in cardiovascular medicine

Published: August 19, 2025

Next generation AAV-F capsid gene therapy rescues disease pathology in a model of pyruvate dehydrogenase complex deficiency.

Next generation AAV-F capsid gene therapy rescues disease pathology in a model of pyruvate dehydrogenase complex deficiency.

Journal: Molecular therapy. Advances

Published: August 13, 2025

Serial Prenatal Imaging of Ganglionic Eminence Evolution: A PDHA1-Variant Case Demonstrating Metabolic Brain Injury Dynamics.

Serial Prenatal Imaging of Ganglionic Eminence Evolution: A PDHA1-Variant Case Demonstrating Metabolic Brain Injury Dynamics.

Journal: Journal of clinical ultrasound : JCU

Published: August 04, 2025

Showing 1-12 of 516

Last Updated: 09/26/2026