Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

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Article

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

American journal of human genetics - 1 Mar 1995

Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole D E, Robertson E, Robinson B H

Abstract excerpt

Human pyruvate dehydrogenase (PDH)-complex deficiency is an inborn error of metabolism that is extremely heterogeneous in its presentation and clinical course. In a study of 14 patients (7 females and 7 males), we have found a mutation in the coding region of the E1 alpha gene in all 14 patients....

Topics

Base Sequence
Child
Child, Preschool
DNA
DNA Transposable Elements
Dosage Compensation, Genetic
Exons
Female
Genetic Linkage
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Pyruvate Dehydrogenase (Lipoamide)

Pyruvate Dehydrogenase Complex

Pyruvate Dehydrogenase Complex Deficiency Disease

Source

Open in PubMed Open full text

Identifiers

PMID: 7887409
PMCID: PMC1801155

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7887409-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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