X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation.

doi:10.1007/BF01800219

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Article

X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation.

Journal of inherited metabolic disease - 1 Jan 1992

Dahl H H, Hansen L L, Brown R M, Danks D M, Rogers J G, Brown G K

Abstract excerpt

Three female patients are described with pyruvate dehydrogenase (PDH) deficiency as a result of mutation in the X-linked gene for the E1 alpha subunit of the complex. Two of these patients illustrate typical presentations of PDH E1 alpha deficiency, with severe neurological dysfunction, degenerative changes and developmental anomalies in the brain, together with variable lactic acidosis. The third patient extends...

Topics

Adolescent
Adult
Base Sequence
Brain
Dosage Compensation, Genetic
Female
Fibroblasts
Genetic Linkage
Heterozygote
Humans
Immunoblotting

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Intellectual Disability

Male

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Pyruvate Dehydrogenase (Lipoamide)

Source

Open in PubMed

Identifiers

PMID: 1293379
DOI: 10.1007/BF01800219

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1293379-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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