Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

BACKGROUND: d‐lactate, one of the isomers of lactate, exists in a low concentration in healthy individuals and it can be oxidized to pyruvate catalyzed by d‐lactate dehydrogenase. Excessive amount of d‐lactate causes d‐lactate acidosis associated with neurological manifestations. METHODS AND RESULTS...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Kwong, Anna Ka‐Yee, Wong, Sheila Suet‐Na, Rodenburg, Richard J. T., Smeitink, Jan, Chan, Godfrey Chi Fung, Fung, Cheuk‐Wing
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2021
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8260477/
https://ncbi.nlm.nih.gov/pubmed/34258137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12220
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