دورية أكاديمية
Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature
| العنوان: | Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature |
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| المؤلفون: | Stanescu, Sinziana, Bravo Alonso, Irene, Belanger Quintana, Amaya, Pérez González, María Belén, Medina‑Diaz, Montserrat, Ruiz-Sala, Pedro, Flores, Nathaly Paola, Buenache, Raquel, Arrieta Blanco, Francisco-Jesús, Rodríguez Pombo, Pilar |
| المساهمون: | UAM. Departamento de Biología Molecular |
| بيانات النشر: | BMC |
| سنة النشر: | 2023 |
| المجموعة: | Universidad Autónoma de Madrid (UAM): Biblos-e Archivo |
| مصطلحات موضوعية: | 3 Hydroxybutyric Acid, Genomic DNA, Monocarboxylate Transporter 1, Valine, Biología y Biomedicina / Biología |
| الوصف: | 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 ; 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) |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | Orphanet Journal of Rare Diseases; https://doi.org/10.1186/s13023-022-02389-4Test; Gobierno de España. PI19/01155; Comunidad de Madrid. B2017/BMD-3721/RAREGENOMICS-CM; Orphanet Journal of Rare Diseases 17.1 (2022): 243; 1750-1172 (online); http://hdl.handle.net/10486/707158Test; 243-1; 243-11; 17 |
| DOI: | 10.1186/s13023-022-02389-4 |
| الإتاحة: | https://doi.org/10.1186/s13023-022-02389-4Test http://hdl.handle.net/10486/707158Test |
| حقوق: | © 2022 The Author(s) ; Reconocimiento ; openAccess |
| رقم الانضمام: | edsbas.F3C5C1B0 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/s13023-022-02389-4 |
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