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

Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers.

European journal of neurology - 1 Jul 2024

Savvidou Antri, Sofou Kalliopi, Eklund Erik A, Aronsson Johan, Darin Niklas

Abstract excerpt

BACKGROUND AND PURPOSE: Pyruvate dehydrogenase complex deficiency is in up to 90% caused by pathogenic variants in the X-linked PDHA1 gene. We aimed to investigate female relatives of index patients with PDHA1-related disease to (i) describe the prevalence of female PDHA1 carriers, (ii) determine whether they had symptoms and signs, and (iii) delineate the associated phenotype. METHODS: In a national...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Phenotype

Share to Pyruvate Dehydrogenase Complex Deficiency Disease

Share to Pyruvate Dehydrogenase (Lipoamide)

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 38497591
DOI: 10.1111/ene.16283
PMCID: PMC11235877

Genes

PDHA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers.PMID 38497591Read ↗

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.Semantic proximity Read ↗

Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.Semantic proximity Read ↗

Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.Semantic proximity Read ↗

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

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

Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1.Semantic proximity Read ↗

Thiamine-responsive pyruvate dehydrogenase complex deficiency presenting as recurrent muscle weakness: Identification of a novel mutation (p.T111I) in the PDHA1 gene.Semantic proximity Read ↗

Females with PDHA1 gene mutations: a diagnostic challenge.Semantic proximity Read ↗

Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.Semantic proximity Read ↗

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.Semantic proximity Read ↗

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

A novel mutation (P316L) in a female with pyruvate dehydrogenase E1 alpha deficiency.Semantic proximity Read ↗

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