Pyruvate Dehydrogenase Deficiency Latest Advances

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

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

In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.

Journal: Molecular genetics and metabolism reports

Published: May 23, 2024

Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet.

Journal: American journal of medical genetics. Part A

Published: April 22, 2024

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

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

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.

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

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

Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

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

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

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

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

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

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

In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.

In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.

Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet.

Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet.