Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 Cases
| Autor: | Luis González Gutiérrez-Solana, Begoña Gómez Fernández, Elvira Cañedo Villarroya, Jana Ruiz Herrero, C. Pedrón-Giner, Laura Andrea Puerta Macfarland, Beatriz García Alcolea |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Pediatrics medicine.medical_specialty Constipation Movement disorders Monosaccharide Transport Proteins food.diet medicine.medical_treatment GLUT1 deficiency syndrome SLC2A1 gene lcsh:TX341-641 Single Center Article 03 medical and health sciences 0302 clinical medicine food Seizures medicine Humans pediatric epilepsy Hypercalciuria Child Glucose Transporter Type 1 Atkins diet Movement Disorders 030109 nutrition & dietetics Nutrition and Dietetics business.industry Infant refractory epilepsy Anthropometry medicine.disease Treatment Outcome ketogenic diet Child Preschool Mutation Cohort Female movement disorder medicine.symptom Diet Ketogenic business lcsh:Nutrition. Foods and food supply Diet High-Protein Low-Carbohydrate 030217 neurology & neurosurgery Carbohydrate Metabolism Inborn Errors Food Science Ketogenic diet |
| Zdroj: | Nutrients Volume 13 Issue 3 Nutrients, Vol 13, Iss 840, p 840 (2021) |
| ISSN: | 2072-6643 |
| DOI: | 10.3390/nu13030840 |
| Popis: | Background: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is caused by mutations in the SLC2A1 gene and produces seizures, neurodevelopmental impairment, and movement disorders. Ketogenic dietary therapies (KDT) are the gold standard treatment. Similar symptoms may appear in SLC2A1 negative patients. The purpose is to evaluate the effectiveness of KDT in children with GLUT1DS suspected SLC2A1 (+) and (-), side effects (SE), and the impact on patients nutritional status. Methods: An observational descriptive study was conducted to describe 18 children (January 2009–August 2020). SLC2A1 analysis, seizures, movement disorder, anti-epileptic drugs (AEDS), anthropometry, SE, and laboratory assessment were monitored baseline and at 3, 6, 12, and 24 months after the onset of KDT. Results: 6/18 were SLC2A1(+) and 13/18 had seizures. In these groups, the age for debut of symptoms was higher. The mean time from debut to KDT onset was higher in SLC2A1(+). The modified Atkins diet (MAD) was used in 12 (5 SLC2A1(+)). Movement disorder improved (4/5), and a reduction in seizures > 50% compared to baseline was achieved in more than half of the epileptic children throughout the follow-up. No differences in effectiveness were found according to the type of KDT. Early SE occurred in 33%. Long-term SE occurred in 10, 5, 7, and 5 children throughout the follow-up. The most frequent SE were constipation, hypercalciuria, and hyperlipidaemia. No differences in growth were found according to the SLC2A1 mutation or type of KDT. Conclusions: CKD and MAD were effective for SLC2A1 positive and negative patients in our cohort. SE were frequent, but mild. Permanent monitoring should be made to identify SE and nutritional deficits. |
| Databáze: | OpenAIRE |
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