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
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 negati...
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MDPI AG
2021-03-01
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| Series: | Nutrients |
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| Online Access: | https://www.mdpi.com/2072-6643/13/3/840 |
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| author | Jana Ruiz Herrero Elvira Cañedo Villarroya Luis González Gutiérrez-Solana Beatriz García Alcolea Begoña Gómez Fernández Laura Andrea Puerta Macfarland Consuelo Pedrón-Giner |
| author_facet | Jana Ruiz Herrero Elvira Cañedo Villarroya Luis González Gutiérrez-Solana Beatriz García Alcolea Begoña Gómez Fernández Laura Andrea Puerta Macfarland Consuelo Pedrón-Giner |
| author_sort | Jana Ruiz Herrero |
| collection | DOAJ |
| description | 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. |
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| id | doaj.art-49cdca168d3745c0b3538dbb0fa66ca1 |
| institution | Directory Open Access Journal |
| issn | 2072-6643 |
| language | English |
| last_indexed | 2024-03-09T05:29:12Z |
| publishDate | 2021-03-01 |
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| series | Nutrients |
| spelling | doaj.art-49cdca168d3745c0b3538dbb0fa66ca12023-12-03T12:33:45ZengMDPI AGNutrients2072-66432021-03-0113384010.3390/nu13030840Classic Ketogenic Diet and Modified Atkins Diet in SLC2A1 Positive and Negative Patients with Suspected GLUT1 Deficiency Syndrome: A Single Center Analysis of 18 CasesJana Ruiz Herrero0Elvira Cañedo Villarroya1Luis González Gutiérrez-Solana2Beatriz García Alcolea3Begoña Gómez Fernández4Laura Andrea Puerta Macfarland5Consuelo Pedrón-Giner6Department of Pediatric Gastroenterology, Pediatric Service, San Rafael Hospital, 28016 Madrid, SpainDepartment of Gastroenterology and Nutrition, University Children’s Hospital Niño Jesús, 28009 Madrid, SpainDepartment of Neurology, University Children’s Hospital Niño Jesús, 28009 Madrid, SpainDepartment of Gastroenterology and Nutrition, University Children’s Hospital Niño Jesús, 28009 Madrid, SpainDepartment of Gastroenterology and Nutrition, University Children’s Hospital Niño Jesús, 28009 Madrid, SpainDepartment of Gastroenterology and Nutrition, University Children’s Hospital Niño Jesús, 28009 Madrid, SpainDepartment of Gastroenterology and Nutrition, University Children’s Hospital Niño Jesús, 28009 Madrid, SpainBackground: 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.https://www.mdpi.com/2072-6643/13/3/840GLUT1 deficiency syndromeSLC2A1 geneketogenic dietpediatric epilepsyrefractory epilepsymovement disorder |
| spellingShingle | Jana Ruiz Herrero Elvira Cañedo Villarroya Luis González Gutiérrez-Solana Beatriz García Alcolea Begoña Gómez Fernández Laura Andrea Puerta Macfarland Consuelo Pedrón-Giner 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 Nutrients GLUT1 deficiency syndrome SLC2A1 gene ketogenic diet pediatric epilepsy refractory epilepsy movement disorder |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | GLUT1 deficiency syndrome SLC2A1 gene ketogenic diet pediatric epilepsy refractory epilepsy movement disorder |
| url | https://www.mdpi.com/2072-6643/13/3/840 |
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