Pyruvate Decarboxylase Deficiency Latest Advances

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

Journal: Neurology

Published: April 14, 2026

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.

Journal: Journal of child neurology

Published: December 23, 2025

An acetylation-dependent switch underlies host disease tolerance during streptococcal infection.

Journal: Scientific reports

Published: December 12, 2025

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.

Journal: Frontiers in cardiovascular medicine

Published: August 19, 2025

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

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology

Published: July 01, 2025

Copper Deficiency Presenting With Bicytopenia During Long-Term Parenteral Nutrition for Short Bowel Syndrome: A Case Report and Literature Review.

Journal: Cureus

Published: May 07, 2025

Ketogenic diet in neonates: effects, pitfalls, and a paradigm from a preterm newborn affected by pyruvate dehydrogenase deficiency.

Journal: Journal of perinatology : official journal of the California Perinatal Association

Published: May 06, 2025

PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.

Journal: Clinical therapeutics

Published: November 07, 2024

Improvement of lactic acidosis in pyruvate dehydrogenase complex deficiency using custom-made amino acid-based dialysate for peritoneal dialysis.

Journal: Pediatric nephrology (Berlin, Germany)

Published: October 21, 2024

Pyruvate Decarboxylase Deficiency Latest Advances

Find the Latest Research About Pyruvate Decarboxylase Deficiency

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.

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

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

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.

An acetylation-dependent switch underlies host disease tolerance during streptococcal infection.

An acetylation-dependent switch underlies host disease tolerance during streptococcal infection.

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

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

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.

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.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Copper Deficiency Presenting With Bicytopenia During Long-Term Parenteral Nutrition for Short Bowel Syndrome: A Case Report and Literature Review.

Copper Deficiency Presenting With Bicytopenia During Long-Term Parenteral Nutrition for Short Bowel Syndrome: A Case Report and Literature Review.

Ketogenic diet in neonates: effects, pitfalls, and a paradigm from a preterm newborn affected by pyruvate dehydrogenase deficiency.

Ketogenic diet in neonates: effects, pitfalls, and a paradigm from a preterm newborn affected by pyruvate dehydrogenase deficiency.

PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.

PHEMI-Phenylbutyrate in Patients With Lactic Acidosis: A Pilot, Single Arm, Phase I/II, Open-Label Trial.

Improvement of lactic acidosis in pyruvate dehydrogenase complex deficiency using custom-made amino acid-based dialysate for peritoneal dialysis.

Improvement of lactic acidosis in pyruvate dehydrogenase complex deficiency using custom-made amino acid-based dialysate for peritoneal dialysis.