This defect of glucose transport into the brain results in hypoglycorrhachia causing epilepsy, developmental delay, and a complex motor disorder in early childhood. Ketones provided by a high-fat, low-carbohydrate diet serve as an alternative fuel to the brain. Glucose, lactate, lipids, and ketones in blood and cerebrospinal fluid were investigated in five GLUT1-deficient patients before and on the KD. Hypoglycorrhachia was detected in the non-ketotic and ketotic state. In ketosis, lactate concentrations in the cerebrospinal fluid increased moderately. Free fatty acids did not enter the brain in significant amounts. Blood concentrations of essential fatty acids determined in 18 GLUT1-deficient patients on the KD were sufficient in all age groups. The effects of the KD in GLUT1 deficiency syndrome, particularly the course of blood lipids, are discussed in an illustrative case. In this syndrome, the KD effectively restores brain energy metabolism. Ketosis does not influence impaired GLUT1-mediated glucose transport into brain: hypoglycorrhachia, the biochemical hallmark of the disease, can be identified in GLUT1-deficient patients on a KD.
Background: The ketogenic diet KD is a high fat, low carbohydrate diet considered to be the treatment of choice for GLUT1deficiency syndrome, a metabolic disorder affecting the nervous system. Methods: Retrospective data from case series. Phenotypical features, mainly movement disorder and seizures, are being described for each patient. All four cases are currently following the Modified Atkins Diet. Results: The response to ketogenic diet in our four patients was significant with improvement of movement disorder or seizures control. Recognition of the disorder is the key for appropriate management among clinicians. Diet compliance is an important issue in school age children. Keywords: ketogenic diet, GLUT1 deficiency syndrome.
Due to persistent episodes, with inability to walk for a long distance, the Modified Atkins Diet with 30 grams of carbohydrates daily has been initiated since October with good response. Conclusion: GLUT1 deficiency syndrome represents a complex childhood encephalopathy that can be treated effectively by means of a ketogenic diet. Blood concentrations of essential fatty acids determined in 18 GLUT1-deficient patients on the KD were sufficient in all age groups. Repeated evaluations and extensive investigations blood, cerebral MRI, EEG, heart and ophthalmological exams have not led to a conclusion. Recognition of the disorder is the key for appropriate management among clinicians. The main biochemical feature is low CSF cerebral spinal fluid glucose level in conditions of normal blood glucose. Abstract The classical ketogenic diet has been used for refractory childhood epilepsy for decades. As high ketones appear essential to meet the brain energy deficit caused by Glut1 deficiency syndrome, the use of novel ketogenic diets in this entity may be limited.
|Are not glut1 ketogenic diet pubmed that necessary Together||Methods: Retrospective data from case series. In one patient seizures were reduced without complete seizure control. In our patients, the modified Atkins diet has been proposed, with a carbohydrate intake of 20 grams daily, unrestricted proteins and increase in fat amount.|
|Thanks glut1 ketogenic diet pubmed cannot tell you||Supplementary concepts Glut1 Deficiency Syndrome. An eight-year-old boy with history of premature birth, at 34 weeks GA gestational age, with good postnatal adaptation, but delayed cognitive and motor milestones, achieved independent walk at two years and two months, expressive language at the age of three years with specific therapy. EEG has revealed persistent bilateral polyspike or spike and wave discharges with no clinical correspondent.|
|Consider that glut1 ketogenic diet pubmed thanks||The ketogenic diet spectrum and its applicability have now been expanded with easier to tolerate and more permissive diets such as the modified Atkins diet or low glycemic index diet. The second case is now a seven year-old boy with no significant personal history and normal milestones. Failure of the ketogenic diet was due to KD inefficacy poor effect despite adequate ketosis, as well as intolerance and an inability to attain ketosis.|