Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature
Entity
UAM. Departamento de Biología MolecularPublisher
BMCDate
2022-12-01Citation
10.1186/s13023-022-02389-4
Orphanet Journal of Rare Diseases 17.1 (2022): 243
ISSN
1750-1172 (online)DOI
10.1186/s13023-022-02389-4Funded by
This work was funded by grant PI19/01155, B2017/BMD-3721 and the European Regional Development Fund. Open Acces is supported by Fundación Ramón Areces (Grant No. CIVP17A2827)Project
Gobierno de España. PI19/01155; Comunidad de Madrid. B2017/BMD-3721/RAREGENOMICS-CMEditor's Version
https://doi.org/10.1186/s13023-022-02389-4Subjects
3 Hydroxybutyric Acid; Genomic DNA; Monocarboxylate Transporter 1; Valine; Biología y Biomedicina / BiologíaRights
© 2022 The Author(s)Abstract
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 remain incomplete. Results: The present work reports a patient suffering from severe, recurrent episodes of metabolic acidosis and psychomotor delay, showing a pathogenic loss-of-function variation c.747_750del in homozygosity in SLC16A1 (which codes for MCT1). Persistent ketotic and lactic acidosis was accompanied by an abnormal excretion of organic acids related to redox balance disturbances. Together with an altered bioenergetic profile detected in patient-derived fibroblasts, this suggests possible mitochondrial dysfunction. Brain MRI revealed extensive, diffuse bilateral, symmetric signal alterations for the subcortical white matter and basal ganglia, together with corpus callosum agenesia. Conclusions: These findings suggest that the clinical spectrum of MCT1 deficiency not only involves recurrent atacks of ketoacidosis, but may also cause lactic acidosis and neuromotor delay with a distinctive neuroimaging pattern including agenesis of corpus callosum and other brain signal alterations
Files in this item
Google Scholar:Stanescu, Sinziana
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Bravo Alonso, Irene
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Belanger Quintana, Amaya
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Pérez González, María Belén
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Medina‑Diaz, Montserrat
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Ruiz-Sala, Pedro
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Flores, Nathaly Paola
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Buenache, Raquel
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Arrieta Blanco, Francisco-Jesús
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Rodríguez Pombo, Pilar
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