Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

BACKGROUND: Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six patients with this condition have been identified, and clinical and biochemical details r...

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Detalles Bibliográficos
Autores principales: Stanescu, Sinziana, Bravo-Alonso, Irene, Belanger-Quintana, Amaya, Pérez, Belen, Medina-Diaz, Montserrat, Ruiz-Sala, Pedro, Flores, Nathaly Paola, Buenache, Raquel, Arrieta, Francisco, Rodríguez-Pombo, Pilar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9215049/
https://www.ncbi.nlm.nih.gov/pubmed/35729663
http://dx.doi.org/10.1186/s13023-022-02389-4

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