Food and Food Products on the Italian Market for Ketogenic Dietary Treatment of Neurological Diseases

The ketogenic diet (KD) is the first line intervention for glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency, and is recommended for refractory epilepsy. It is a normo-caloric, high-fat, adequate-protein, and low-carbohydrate diet aimed at switching the brain metabolism from glucose dependence to the utilization of ketone bodies. Several variants of KD are currently available. Depending on the variant, KDs require the almost total exclusion, or a limited consumption of carbohydrates. Thus, there is total avoidance, or a limited consumption of cereal-based foods, and a reduction in fruit and vegetable intake. KDs, especially the more restrictive variants, are characterized by low variability, palatability, and tolerability, as well as by side-effects, like gastrointestinal disorders, nephrolithiasis, growth retardation, hyperlipidemia, and mineral and vitamin deficiency. In recent years, in an effort to improve the quality of life of patients on KDs, food companies have started to develop, and commercialize, several food products specific for such patients. This review summarizes the foods themselves, including sweeteners, and food products currently available for the ketogenic dietary treatment of neurological diseases. It describes the nutritional characteristics and gives indications for the use of the different products, taking into account their metabolic and health effects.

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A Case Report of Glucose Transporter 1 Deficiency Syndrome with a Novel Splice Site Mutation (SLC2A1: c.680-2delA)

Journal of the korean child neurology society ◽

10.26815/jkcns.2014.22.3.182 ◽

2014 ◽

Vol 22 (3) ◽

pp. 182-185

Author(s):

신종수 ◽

김성환 ◽

이문정

Keyword(s):

Case Report ◽

Splice Site ◽

Glucose Transporter ◽

Splice Site Mutation ◽

Deficiency Syndrome ◽

Site Mutation ◽

Glucose Transporter 1

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Epilepsy and glucose transporter 1 deficiency syndrome

Journal of Pediatric Epilepsy ◽

10.3233/pep-14091 ◽

2015 ◽

Vol 03 (04) ◽

pp. 191-198

Author(s):

Daryl Vivo ◽

Cigdem Akman

Keyword(s):

Glucose Transporter ◽

Deficiency Syndrome ◽

Glucose Transporter 1

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Glucose Transporter-1 (GLUT1) Deficiency Syndrome: Diagnosis and Treatment in Late Childhood

Neuropediatrics ◽

10.1055/s-0032-1315433 ◽

2012 ◽

Vol 43 (03) ◽

pp. 168-171 ◽

Cited By ~ 9

Author(s):

Gwendolyn Gramer ◽

Nicole Wolf ◽

Daniel Vater ◽

Thomas Bast ◽

René Santer ◽

...

Keyword(s):

Glucose Transporter ◽

Deficiency Syndrome ◽

Diagnosis And Treatment ◽

Late Childhood ◽

Glucose Transporter 1 ◽

Syndrome Diagnosis ◽

Glut1 Deficiency ◽

Glut1 Deficiency Syndrome

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Acute exercise increases brain region-specific expression of MCT1, MCT2, MCT4, GLUT1, and COX IV proteins

Journal of Applied Physiology ◽

10.1152/japplphysiol.01288.2013 ◽

2014 ◽

Vol 116 (9) ◽

pp. 1238-1250 ◽

Cited By ~ 39

Author(s):

Masaki Takimoto ◽

Taku Hamada

Keyword(s):

Brain Region ◽

Acute Exercise ◽

Glucose Transporter ◽

Prolonged Exercise ◽

Ketone Bodies ◽

Hypoxia Inducible Factor ◽

Exercise Session ◽

Specific Expression ◽

Glucose Transporter 1 ◽

The Brain

The brain is capable of oxidizing lactate and ketone bodies through monocarboxylate transporters (MCTs). We examined the protein expression of MCT1, MCT2, MCT4, glucose transporter 1 (GLUT1), and cytochrome- c oxidase subunit IV (COX IV) in the rat brain within 24 h after a single exercise session. Brain samples were obtained from sedentary controls and treadmill-exercised rats (20 m/min, 8% grade). Acute exercise resulted in an increase in lactate in the cortex, hippocampus, and hypothalamus, but not the brainstem, and an increase in β-hydroxybutyrate in the cortex alone. After a 2-h exercise session MCT1 increased in the cortex and hippocampus 5 h postexercise, and the effect lasted in the cortex for 24 h postexercise. MCT2 increased in the cortex and hypothalamus 5–24 h postexercise, whereas MCT2 increased in the hippocampus immediately after exercise, and remained elevated for 10 h postexercise. Regional upregulation of MCT2 after exercise was associated with increases in brain-derived neurotrophic factor and tyrosine-related kinase B proteins, but not insulin-like growth factor 1. MCT4 increased 5–10 h postexercise only in the hypothalamus, and was associated with increased hypoxia-inducible factor-1α expression. However, none of the MCT isoforms in the brainstem was affected by exercise. Whereas GLUT 1 in the cortex increased only at 18 h postexercise, COX IV in the hippocampus increased 10 h after exercise and remained elevated for 24 h postexercise. These results suggest that acute prolonged exercise induces the brain region-specific upregulation of MCT1, MCT2, MCT4, GLUT1, and COX IV proteins.

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Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome

Blood ◽

10.1182/blood-2010-12-326645 ◽

2011 ◽

Vol 118 (19) ◽

pp. 5267-5277 ◽

Cited By ~ 42

Author(s):

Joanna F. Flatt ◽

Hélène Guizouarn ◽

Nicholas M. Burton ◽

Franck Borgese ◽

Richard J. Tomlinson ◽

...

Keyword(s):

Glucose Transporter ◽

Deficiency Syndrome ◽

Glucose Transporter 1 ◽

3 Dimensional ◽

Transporter Protein ◽

Expression Studies ◽

Glut1 Deficiency ◽

Glut1 Deficiency Syndrome ◽

Reticulocyte Maturation ◽

Exercise Induced

Abstract The hereditary stomatocytoses are a series of dominantly inherited hemolytic anemias in which the permeability of the erythrocyte membrane to monovalent cations is pathologically increased. The causative mutations for some forms of hereditary stomatocytosis have been found in the transporter protein genes, RHAG and SLC4A1. Glucose transporter 1 (glut1) deficiency syndromes (glut1DSs) result from mutations in SLC2A1, encoding glut1. Glut1 is the main glucose transporter in the mammalian blood-brain barrier, and glut1DSs are manifested by an array of neurologic symptoms. We have previously reported 2 cases of stomatin-deficient cryohydrocytosis (sdCHC), a rare form of stomatocytosis associated with a cold-induced cation leak, hemolytic anemia, and hepatosplenomegaly but also with cataracts, seizures, mental retardation, and movement disorder. We now show that sdCHC is associated with mutations in SLC2A1 that cause both loss of glucose transport and a cation leak, as shown by expression studies in Xenopus oocytes. On the basis of a 3-dimensional model of glut1, we propose potential mechanisms underlying the phenotypes of the 2 mutations found. We investigated the loss of stomatin during erythropoiesis and find this occurs during reticulocyte maturation and involves endocytosis. The molecular basis of the glut1DS, paroxysmal exercise-induced dyskinesia, and sdCHC phenotypes are compared and discussed.

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