View in EDS PDF Full Text

Síndrome de deficiencia del transportador de glucosa tipo 1 (GLUT1DS): Caracterización de una cohorte tratada con terapia cetogénica.

Saved in:
Bibliographic Details
Title: Síndrome de deficiencia del transportador de glucosa tipo 1 (GLUT1DS): Caracterización de una cohorte tratada con terapia cetogénica.
Alternate Title: Glucose transporter type 1 deficiency syndrome (GLUT1DS): Characterization of a cohort treated with ketogenic therapy.
Authors: Cornejo Espinoza, Verónica1, Baeza Laraa, Cecilia1,2, Marín Medina, José2, Parga Conchac, Valentina3, Jesús Leal-Witta, María1, Crespo De Diego, María Gabriela1,4, Castiglioni Toledod, Claudia1, Suarez Squadrittod, Bernardita5, Pérez Nuñeze, Carmen6, Pizarro Ríosf, Lorena7, Carrasco Chaparrog, Ximena8, Loreto Rios-Pohlh, Erna9, López Avariai, Francisca10, Vega Toroj, Sebastián11, Navarrete Balart, Daniela12, Vargas Leal, Carmen13, Cabello Andrade, Juan Francisco1, Arias Pefaur, Carolina1, Salazar Silva, María Florencia1 mfsalazar@inta.uchile.cl
Source: Andes Pediatrica. mar/abr2026, Vol. 97 Issue 2, p200-211. 12p.
Subjects: KETOGENIC diet, GENES, SENSORIMOTOR integration, INBORN errors of metabolism, MOVEMENT disorders, EPILEPSY, INTELLIGENCE levels
Abstract (English): Glucose transporter type 1 deficiency syndrome (GLUT1DS), caused by variants in the SLC2A1 gene, causes conditions ranging from refractory epilepsy to movement disorders. Treatment consists of ketogenic therapy (KT). Objective: To characterize a cohort of patients with GLUT1DS undergoing KT, in follow-up at a national reference center in Chile. Patients and Method: A retrospective cohort study was conducted. Data were collected from clinical records, and the treating neurologists were consulted regarding phenotype, genotype, and clinical evolution following KT. A descriptive analysis was performed (median with interquartile range [IQR]) and Spearman correlation. Results: Nineteen patients were analyzed, with a median age of 7.3 years (IQR: 3.6-12.5). Symptom onset occurred at 0.5 years (IQR: 0.3-2.3); 16 patients presented with the classic phenotype. Eighteen patients (95%) experienced epileptic seizures, 12 (63%) had movement disorders, and 8 (42%) had language disorders. Diagnosis was established at 5 years (IQR: 0.6-7.5). In 16/19 patients, variants were identified in the SLC2A1 gene. Significant negative correlations were observed between the interval from symptom onset to treatment initiation and the psychomotor development index (r = -0.82), verbal intelligence quotient (r = -0.73), and total intelligence quotient (r = -0.68). Following the initiation of KT, 14/19 patients became seizure-free, and 10/16 discontinued antiepileptic drugs. Modified KT (14/19) and malnutrition due to excess (11/19) predominated. Five patients developed mixed dyslipidemia. Conclusion: Ketogenic therapy was effective in managing epileptic seizures in GLUT1DS. Early diagnosis and timely initiation of KT should improve neurological prognosis. [ABSTRACT FROM AUTHOR]
Abstract (Spanish): El síndrome de deficiencia del transportador de glucosa tipo 1 (GLUT1DS), causado por variantes en gen SLC2A1, produce desde epilepsia refractaria hasta trastornos del movimiento. El tratamiento es la terapia cetogénica (TC). Objetivo: Caracterizar una cohorte de pacientes con GLUT1DS en TC en seguimiento por el centro de referencia nacional de Chile. Pacientes y Método: Estudio de cohorte retrospectiva. Se recopilaron datos de la ficha clínica y se consultó a los neurólogos tratantes sobre fenotipo, genotipo, evolución clínica tras TC. Se realizó análisis descriptivo (mediana con rango intercuartílico) y correlación de Spearman. Resultados: Se analizaron 19 pacientes, edad 7,3 años (RIC: 3,6-12,5). El inicio de síntomas fue a los 0,5 años (RIC 0,3-2,3); 16 presentaron fenotipo clásico. Dieciocho (95%) tuvieron crisis epilépticas, 12 (63%) trastornos del movimiento y 8 (42%) alteraciones del lenguaje. El diagnóstico fue a los 5 años (RIC 0,6-7,5). En 16/19 se identificaron variantes en gen SLC2A1. Se observaron correlaciones negativas significativas entre el intervalo inicio síntomas-tratamiento y el índice de desarrollo psicomotor (r = -0,82), coeficiente intelectual verbal (r = -0,73) y coeficiente intelectual total (r = -0,68). Tras iniciar TC, 14/19 quedaron libres de crisis y 10/16 suspendieron fármacos antiepilépticos. Predominaron la TC modificada (14/19) y la malnutrición por exceso (11/19). Cinco pacientes desarrollaron dislipidemia mixta. Conclusión: La TC fue eficaz en el manejo de crisis epilépticas en GLUT1DS. El diagnóstico precoz y su inicio oportuno de la TC debería mejorar el pronóstico neurológico. [ABSTRACT FROM AUTHOR]
Copyright of Andes Pediatrica is the property of Revista Chilena de Pediatria and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: MedicLatina
Description
Abstract:Glucose transporter type 1 deficiency syndrome (GLUT1DS), caused by variants in the SLC2A1 gene, causes conditions ranging from refractory epilepsy to movement disorders. Treatment consists of ketogenic therapy (KT). Objective: To characterize a cohort of patients with GLUT1DS undergoing KT, in follow-up at a national reference center in Chile. Patients and Method: A retrospective cohort study was conducted. Data were collected from clinical records, and the treating neurologists were consulted regarding phenotype, genotype, and clinical evolution following KT. A descriptive analysis was performed (median with interquartile range [IQR]) and Spearman correlation. Results: Nineteen patients were analyzed, with a median age of 7.3 years (IQR: 3.6-12.5). Symptom onset occurred at 0.5 years (IQR: 0.3-2.3); 16 patients presented with the classic phenotype. Eighteen patients (95%) experienced epileptic seizures, 12 (63%) had movement disorders, and 8 (42%) had language disorders. Diagnosis was established at 5 years (IQR: 0.6-7.5). In 16/19 patients, variants were identified in the SLC2A1 gene. Significant negative correlations were observed between the interval from symptom onset to treatment initiation and the psychomotor development index (r = -0.82), verbal intelligence quotient (r = -0.73), and total intelligence quotient (r = -0.68). Following the initiation of KT, 14/19 patients became seizure-free, and 10/16 discontinued antiepileptic drugs. Modified KT (14/19) and malnutrition due to excess (11/19) predominated. Five patients developed mixed dyslipidemia. Conclusion: Ketogenic therapy was effective in managing epileptic seizures in GLUT1DS. Early diagnosis and timely initiation of KT should improve neurological prognosis. [ABSTRACT FROM AUTHOR]
ISSN:24526045
DOI:10.32641/andespediatr.v97i2.5791