Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.

Brain & development - 1 Feb 2012

Koga Yasutoshi, Povalko Nataliya, Katayama Koujyu, Kakimoto Noriko, Matsuishi Toyojiro, Naito Etsuo, Tanaka Masashi

Abstract excerpt

Leigh syndrome (LS) is a progressive untreatable degenerating mitochondrial disorder caused by either mitochondrial or nuclear DNA mutations. A patient was a second child of unconsanguineous parents. On the third day of birth, he was transferred to neonatal intensive care units because of severe lactic acidosis. Since he was showing continuous lactic acidosis, the oral supplementation of dichloroacetate (DCA) was...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alanine
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Lactic Acid

Share to Leigh Disease

Share to Pyruvate Dehydrogenase (Lipoamide)

Share to Pyruvic Acid

Share to Statistics, Nonparametric

Source

Identifiers

PMID: 21454027
DOI: 10.1016/j.braindev.2011.03.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.PMID 21454027Read ↗

Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency.Semantic proximity Read ↗

Thiamine responsive pyruvate dehydrogenase complex deficiency: A potentially treatable cause of Leigh's diseaseSemantic proximity Read ↗

[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].Semantic proximity Read ↗

Management of Leigh syndrome: Current status and new insights.Semantic proximity Read ↗

Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications.Semantic proximity Read ↗

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.Semantic proximity Read ↗

A missense mutation in PDHB gene: identification of the patient with Pyruvate dehydrogenase deficiency and demonstration of pathogenicity in vitroSemantic proximity Read ↗

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.Semantic proximity Read ↗

Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.Semantic proximity Read ↗

[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].Semantic proximity Read ↗

Cell-Permeable Succinate Increases Mitochondrial Membrane Potential and Glycolysis in Leigh Syndrome Patient Fibroblasts.Semantic proximity Read ↗

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.