Experience with the use of a ketogenic diet with type 1 glucose transporter deficiency (De Vivo disease)

De Vivo disease is characterized by early epileptic encephalopathy, delayed psychomotor development, spasticity, the formation of microcephaly, ataxia, dysarthria, alternating hemiplegia, and a decrease in glucose and lactate levels in the cerebrospinal fluid. Epilepsy is pharmacoresistant and the therapy for this syndrome is the ketogenic diet (until the time when will development of genetic targeted therapy). In GLUT1 deficiency syndrome, mutations are found in the SLC2A1 gene that lead to a decrease in glucose transport across the cell membrane. The “classic” ketogenic diet is a special high-fat, low-carbohydrate diet that helps to control seizures in some people with epilepsy. It is prescribed by a physician and carefully monitored by a dietitian. It is usually used in children with seizures that do not respond to medications. It is stricter than the modified Atkins diet, requiring careful measurements of calories, fluids, and proteins. Foods are weighed and measured. Normal dietary fats, which are used predominantly in the classical ketogenic diet, consist of a mixture of mainly long chain triglyceride (LCT) fats with a small amount of short and medium chain triglyceride (MCT) fats. The MCT ketogenic diet uses a fat supplement that consists only of MCT fats (MCT oil).

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Why should a neuropaediatrician always measure head circumference - a case report of Glucose transporter 1 deficiency syndrome (Glut1-DS)

10.20966/chn.2020.58.464 ◽

2020 ◽

Vol 29 (58) ◽

pp. 89-91

Author(s):

Barbara Oleksy ◽

◽

Hanna Mierzewska ◽

Agata Lipiec ◽

Elżbieta Szczepanik ◽

...

Keyword(s):

Ketogenic Diet ◽

Glucose Transporter ◽

Motor Coordination ◽

Deficiency Syndrome ◽

Psychomotor Development ◽

Motor Disorders ◽

Degree Relative ◽

Glucose Transporter 1 ◽

Neurometabolic Disorders ◽

Wide Range

Introduction. The deficit of the type 1 glucose transporter (Glut1-DS) belongs to the neurometabolic disorders that can be effectively treated, in this case with ketogenic diet. By limiting glucose supply to the brain the deficit of glucose transporter 1 leads to cerebral energy deficiency. Glut1-DS manifests with a wide range of neurological symptoms that usually start in early childhood, including cognitive impairment, epilepsy and permanent and/or paroxysmal motor disorders, often provoked by physical activity, fasting or hyperthermale. Aim. We present the case of a 6,5-year-old patient with Glut1- -DS who, despite presenting typical symptoms, remained undiagnosed for years. Family history was positive of intellectual disability in first degree relative. The child suffered from psychomotor development delay, motor coordination difficulties, motor disorders and epilepsy with focal and absence seizures of early onset. However, the significant symptom of secondary microcephaly remained unnoticed for years. Conclusion. Secondary microcephaly is a valuable symptom which can guide towards the diagnosis. The early diagnosis of Glut1 deficiency syndrome enables prompt introduction of the ketogenic diet crucial for the child’s development and improvement of both the patients and their families’ quality of life.

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Positive Impact of a Modified Atkins Diet on Cognition, Seizures Control and Abnormal Movements in an Adult With Glucose Transporter Type 1 Deficiency Syndrome Deficiency Syndrome

10.20944/preprints202105.0101.v1 ◽

2021 ◽

Author(s):

Luisa A. Diaz-Arias ◽

Bobbie J. Henry-Barron ◽

Alison Buchholz ◽

Mackenzie C. Cervenka

Keyword(s):

Ketogenic Diet ◽

Glucose Transporter ◽

Diet Therapy ◽

Deficiency Syndrome ◽

Newly Diagnosed ◽

Modified Atkins Diet ◽

Abnormal Movements ◽

Atkins Diet ◽

The Brain

Glucose is the primary energy fuel used by the brain and is transported across the blood-brain barrier (BBB) by the glucose transporter type 1 and 2.[1] A GLUT1 genetic defect is responsible for glucose transporter type 1 deficiency syndrome (GLUT1DS). Patients with GLUT1DS may present with pharmaco-resistant epilepsy, developmental delay, microcephaly, and/or abnormal movements, with tremendous phenotypic variability. Diagnosis is made by the presence of specific clinical features, hypoglycorrhachia and an SLC2A1 gene mutation. Treatment with a ketogenic diet therapy (KDT) is the standard of care as it results in production of ketone bodies which can readily cross the BBB and provide an alternate energy source to the brain in the absence of glucose. KDTs have been shown to reduce seizures and abnormal movements in children diagnosed with GLUT1DS. However, little is known about the impact of KDT on cognitive function, seizures and movement disorders in adults newly diagnosed with GLUT1DS and started on a KDT in adulthood, or the appropriate ketogenic diet therapy to administer. This case report demonstrates the potential benefits of using a modified Atkins diet (MAD), a less restrictive ketogenic diet therapy on cognition, seizure control and motor function in an adult with newly-diagnosed GLUT1SD.

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Experience in the Use of a Ketogenic Diet in a Patient with Type I Glucose Transporter Deficiency Syndrome (clinical observations)

Neuroscience and Behavioral Physiology ◽

10.1007/s11055-016-0356-0 ◽

2016 ◽

Vol 46 (9) ◽

pp. 1090-1096

Author(s):

E. G. Luk’yanova ◽

S. O. Aivazyan ◽

K. V. Osipova ◽

E. A. Pyr’eva ◽

T. N. Sorvacheva

Keyword(s):

Ketogenic Diet ◽

Glucose Transporter ◽

Deficiency Syndrome ◽

Type I ◽

Clinical Observations ◽

Transporter Deficiency

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Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet

Epilepsia ◽

10.1111/j.1528-1167.2008.01833.x ◽

2008 ◽

Vol 49 ◽

pp. 46-49 ◽

Cited By ~ 89

Author(s):

Jörg Klepper

Keyword(s):

Ketogenic Diet ◽

Glucose Transporter ◽

Deficiency Syndrome ◽

Transporter Deficiency

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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 ◽

10.3390/nu13030840 ◽

2021 ◽

Vol 13 (3) ◽

pp. 840

Author(s):

Jana Ruiz Herrero ◽

Elvira Cañedo Villarroya ◽

Luis González Gutiérrez-Solana ◽

Beatriz García Alcolea ◽

Begoña Gómez Fernández ◽

...

Keyword(s):

Movement Disorder ◽

Glucose Transporter ◽

Deficiency Syndrome ◽

Laboratory Assessment ◽

Modified Atkins Diet ◽

Atkins Diet ◽

Glut1 Deficiency ◽

Glut1 Deficiency Syndrome ◽

The Impact

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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Ketogenic diet, seizure control, and cardiometabolic risk in adult patients with pharmacoresistant epilepsy: a review

Nutrition Reviews ◽

10.1093/nutrit/nuaa112 ◽

2020 ◽

Author(s):

Gabriela S Neves ◽

Mariana S Lunardi ◽

Katia Lin ◽

Débora Kurrle Rieger ◽

Letícia C Ribeiro ◽

...

Keyword(s):

Ketogenic Diet ◽

Cardiometabolic Risk ◽

Medium Chain Triglyceride ◽

General Term ◽

Adult Patients ◽

Pharmacoresistant Epilepsy ◽

Medium Chain ◽

Modified Atkins Diet ◽

Comprehensive Information ◽

Cholesterol Intake

Abstract Pharmacoresistant epilepsy causes serious deleterious effects on the patient’s health and quality of life. For this condition, a ketogenic diet (KD) is a treatment option. The KD is a general term for a set of diets that contain high amounts of fat and low content of carbohydrates. The most prominent KD treatments are classical KD (4:1 ratio of fat to carbohydrate), modified Atkins diet (2:1 to 1:1 ratio), medium-chain triglycerides KD (with medium-chain triglyceride as a part of the fat content), and low glycemic index KD (using low glycemic carbohydrates). KD has been widely prescribed for children with epilepsy but not for adult patients. One of the main concerns about adult use of KD is its cardiovascular risk associated with high-fat and cholesterol intake. Therefore, this narrative review provides comprehensive information of the current literature on the effects of KD on lipid profile, glycemic-control biomarkers, and other cardiometabolic risk factors in adult patients with pharmacoresistant epilepsy.

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Alternative Therapies for Epilepsy

10.1093/med/9780199937837.003.0046 ◽

2017 ◽

Author(s):

Carl E. Stafstrom

Keyword(s):

Ketogenic Diet ◽

Medium Chain Triglyceride ◽

Dietary Therapy ◽

Promising Alternative ◽

Seizure Reduction ◽

Modified Atkins Diet ◽

Dietary Restrictions ◽

Patients With Epilepsy ◽

Low Glycemic Index

Up to one third of patients with epilepsy suffer from seizures that are refractory to medications. For these patients, many of whom are not surgical candidates, dietary therapies provide a promising alternative. The best known dietary therapy is the ketogenic diet, which was developed in the 1920s; newer variants of the ketogenic diet, such as the medium-chain triglyceride diet, modified Atkins diet, and low glycemic index treatment, afford excellent seizure control with fewer dietary restrictions. Together, dietary approaches offer drug-resistant patients hope for seizure reduction and an improved quality of life.

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