Pyruvate Dehydrogenase Deficiency Latest Advances

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

A primary mechanism for efficacy of the ketogenic diet may be energy repletion at the tripartite synapse.

Journal: Journal of neural engineering

Published: July 14, 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

Case Report: A novel hemizygous missense PDHA1 variant in a Vietnamese boy with pyruvate dehydrogenase E1-alpha deficiency.

Journal: Frontiers in pediatrics

Published: September 11, 2024

Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Journal: Neurology

Published: August 05, 2024

A missense mutation in PDHB gene: identification of the patient with pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitro.

Journal: Italian journal of pediatrics

Published: May 31, 2024

Are stroke-like events in pyruvate dehydrogenase deficiency ischemic, metabolic, or both in nature?

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: May 27, 2024

Pyruvate dehydrogenase complex deficiency masked by septic shock-induced lactic acidosis: a case report.

Journal: The Journal of international medical research

Published: May 24, 2024