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Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).

Genes - 11 Oct 2022

Serrano-Lorenzo Pablo, Rabasa María, Esteban Jesús, Hidalgo Mayoral Irene, Domínguez-González Cristina, Blanco-Echevarría Agustín, Garrido-Moraga Rocío, Lucia Alejandro, Blázquez Alberto, Rubio Juan C, Palma-Milla Carmen, Arenas Joaquín, Martín Miguel A

Abstract excerpt

Lactate dehydrogenase (LDH) catalyzes the reversible conversion of L-lactate to pyruvate. LDH-A deficiency is an autosomal recessive disorder (glycogenosis type XI, OMIM#612933) caused by mutations in the LDHA gene. We present two young adult female patients presenting with intolerance to anaerobic exercise, episodes of rhabdomyolysis, and, in one of the patients, psoriasis-like dermatitis. We identified in the...

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Identifiers

PMID: 36292720
DOI: 10.3390/genes13101835
PMCID: PMC9601687

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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