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

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

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 <i>LDHA</i> gene. We present two young adult female patients presenting with intole...

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Bibliographic Details
Main Authors: Pablo Serrano-Lorenzo, María Rabasa, Jesús Esteban, Irene Hidalgo Mayoral, Cristina Domínguez-González, Agustín Blanco-Echevarría, Rocío Garrido-Moraga, Alejandro Lucia, Alberto Blázquez, Juan C. Rubio, Carmen Palma-Milla, Joaquín Arenas, Miguel A. Martín
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Genes
Subjects:
lactate dehydrogenase (LDH)
lactate dehydrogenase A deficiency
<i>LDHA</i> gene
LDH isoenzymes
myopathy and psoriatic dermatitis
Online Access:https://www.mdpi.com/2073-4425/13/10/1835

Internet

https://www.mdpi.com/2073-4425/13/10/1835

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