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Article

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

Journal of inherited metabolic disease - 1 Dec 2010

Quintana Ester, Pineda Mercé, Font Aida, Vilaseca Maria Antonia, Tort Frederic, Ribes Antonia, Briones Paz

Abstract excerpt

We present a 32-year-old patient who, from age 7 months, developed photophobia, left-eye ptosis and progressive muscular weakness. At age 7 years, she showed normal psychomotor development, bilateral ptosis and exercise-induced weakness with severe acidosis. Basal blood and urine lactate were normal, increasing dramatically after effort. PDHc deficiency was demonstrated in muscle and fibroblasts without...

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Source

Identifiers

PMID: 20652410
DOI: 10.1007/s10545-010-9169-4

Genes

DLD
PDHA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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