diabetestalk.net

Glucose Transporter 1 Deficiency

What Is Glut1 Deficiency?

What Is Glut1 Deficiency?

Glut1 Deficiency, G1D, Glut1 DS, or De Vivo Disease Glucose Transporter Type 1 Deficiency Syndrome is a genetic disorder that impairs brain metabolism.Glucose isnt transported properly into the brain, leaving itstarving for the energy itneeds to grow and function. Glut1 Deficiencyis caused by a mutation in the SLC2A1 gene, which regulates the glucose transporter protein type 1 (Glut1). Glut1 is the principal transporter of glucose, the primary source of energy, across the blood-brain barrier. More than 100 different types of mutations and deletions of this gene have been found to date in Glut1 Deficiency patients. The impaired glucose transport associated with Glut1 Deficiency causes an array of symptoms which may vary considerably from one patient to another and can change and evolve over time. Some of the most common signs and symptoms may include seizures, movement disorders, speech and language disorders, and developmental delays. Not all patients experience all symptoms, especially in the milder phenotypes. There are currently a few hundred patientsdiagnosed worldwide, but experts believe there are thousandsmore yet to be discovered. There is currently no cure for Glut1 Deficiency. The recommended standardtreatment is a ketogenic diet , which helps improve most symptoms for most patients by giving the brain an alternate source of energy and helps optimize brain growth and development. Thehallmark symptomsof Glut1 Deficiency are seizures (90% of patients), a complex movement disorder, developmental delay, and speech/language disorders. There is a great deal of variance across a widespectrum in both the combination and severity of symptoms fromone patient toanother, and symptoms may evolve over time. Some of the other suggestive symptoms seen in manyGlut1 Deficiency Continue reading >>

What Is Glucose Transporter Deficiency Syndrome (glut1 Ds)?

What Is Glucose Transporter Deficiency Syndrome (glut1 Ds)?

WHAT IS GLUCOSE TRANSPORTER DEFICIENCY SYNDROME (Glut1 DS)? Glucose transporter deficiency syndrome (Glut1 DS) is a pediatric brain energy metabolic syndrome. Glut1 DS was first discovered in 1991 by Dr. Darryl DeVivo at the Colleen Giblin Laboratories, Columbia Presbyterian Medical Center. We know of hundreds of children who have Glut1 DS but believe there may be thousands of children who are undiagnosed. Having Glut1 DS means that an afflicted child's cells do not pick up and transport glucose to the brain properly. Glucose is the principal source of fuel to the brain. Children with this disorder have a myriad of physical and mental disabilities, ranging from mild to so severe that they cannot walk or talk. They are many, and they vary in degree. Most often, a child or infant presents with unexplainable seizures. The doctors rule out the usual causes and cannot determine why the child's seizures persist. Those affected with Glut1 DS usually do not respond to anti-seizure medications. In fact, the gold standard for pediatric seizures, phenylbarbitol, actually inhibits glucose transport to the brain. So, babies and children who are put on this medication usually get even worse symptomatically. In addition to seizures, other symptoms of Glut1 DS include low muscle tone which leads to physical difficulties including problems with crawling, jumping, walking, running, riding a bike, kicking a ball and many other typical childhood physical activities. All children with Glut1 DS experience problems with speech, both receptive and expressive. This means they may not be able to speak at all, or that they have slurred speech or difficulty accessing and articulating sounds and words and sentences. They also have cognitive and learning delays and disabilities. And if their brains Continue reading >>

New Clinical Trial Announced For Patients With Glucose Transporter Type-1 Deficiency Syndrome

New Clinical Trial Announced For Patients With Glucose Transporter Type-1 Deficiency Syndrome

New Clinical Trial Announced for Patients with Glucose Transporter Type-1 Deficiency Syndrome For Patients With Glucose Transporter Type-1 Deficiency Syndrome (Glut1 DS) Experiencing Movement Disorders Learn about a Phase 3 clinical research What Is Glucose Transporter Type-1 Deficiency Syndrome (Glut1 DS)? Glut1 DS is caused by a genetic defect in the transport of glucose into the brain.1 Symptoms generally fall into 3 categories: (Multiple types of movement disorders can occur due to Glut1 DS, including paroxysmal dyskinesias (pa-rox-is-mal dis-kin-ee-see-as) These are movement disorders that are episodic, which means they only happen at certain times They may happen with or without seizures A Phase 3 clinical study in people with Glut1 DS is now enrolling. You may be eligible to enroll if you meet the following key criteria: Experience movement disorder events that impact or limit physical functioning and/or activities of daily living at least once per month Examples of ways in which movement disorder events might impact or limit activities include caring for oneself, walking, attending or participating in school or work, or doing sports or exercise Not on, or not regularly following, a special diet, such as the ketogenic diet, for 3 months prior to screening People who are doing well and who are stable on the ketogenic diet should not discontinue the diet in order to participate in this study. What should I know about the Phase 3 clinical study? The study will collect information on safety and efficacy of UX007 in people with Glut1 DS with paroxysmal movement disorders The study is 28 weeks long, and is a randomized, double-blind, placebo-controlled crossover study. This means that: At the beginning of the study, half of all subjects will receive UX007, and half wi Continue reading >>

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical And Genetic Spectrum Of A Treatable Disorder

Glucose Transporter-1 Deficiency Syndrome: The Expanding Clinical And Genetic Spectrum Of A Treatable Disorder

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder 1 Department of Neurology Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands Search for other works by this author on: 2 Department of Paediatrics and Paediatric Neurology, Childrens Hospital, Aschaffenburg, Germany Search for other works by this author on: 1 Department of Neurology Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands 3 Laboratory of Paediatrics and Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands Search for other works by this author on: 4 Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands Search for other works by this author on: 4 Department of Human Genetics, Radboud University Nijmegen Medical Centre, The Netherlands Search for other works by this author on: 1 Department of Neurology Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands Search for other works by this author on: 3 Laboratory of Paediatrics and Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands Search for other works by this author on: 5 Department of Child Neurology, Cincinnati Childrens Hospital Medical Centre, Cincinnati, USA Search for other works by this author on: 6 Paediatric Neurology Necker Enfants Malades, APHP, Universit Paris Descartes, Paris, France Search for other works by this author on: 7 Division of Molecular Paediatrics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, Continue reading >>

Glut1 Deficiency Syndrome

Glut1 Deficiency Syndrome

freephone helpline 0808 800 5050 0808 800 5050 This is a rare genetic disorder that impairs brain metabolism. GLUT1 (a protein) is responsible for the transport of glucose (a sugar) from the blood into the brain. Glucose is the main source of fuel for the brain. A shortage of glucose leads to impairment of brain function and growth. SCL2A1 is the name of the gene that provides instructions to produce the protein, GLUT1. It is found on chromosome 1. Mutations (changes in the way the gene is made up or sequenced) in the SCL2A1 gene cause this condition. It is inherited in an autosomal dominant pattern. This means one copy of the altered gene in a cell is enough to cause the condition. However, most cases happen because of a new mutation in the gene. This means there will be no family history, although rarely one parent may be mildly affected. Most children start having seizures in the first few months of life, although some children only develop seizures later, at around 2 or 4 years of age. They may also show other neurological symptoms including difficulties with balance and co-ordination and they may show abnormal movements of their limbs and eyes. Other names for GLUT1 deficiency syndrome Glucose transporter type 1 deficiency syndrome Children can have a variety of symptoms which can be present all the time, or can come and go (doctors describe these as paroxysmal or episodic). Children with paroxysmal symptoms are often worse when they havent eaten much, or before a meal. Children may appear dazed, confused or drunk when they wake up and before they have breakfast. The seizures may be of any type but are usually myoclonic, atonic (drop) and tonic-clonic. In this syndrome, abnormal paroxysmal eye movements may be noticed before the seizures start. Babies will often h Continue reading >>

Glut1 Deficiency Syndrome - Genetics Home Reference

Glut1 Deficiency Syndrome - Genetics Home Reference

What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people. However, researchers suggest that the disorder may be underdiagnosed, because many neurological disorders can cause similar symptoms. What information about a genetic condition can statistics provide? Why are some genetic conditions more common in particular ethnic groups? GLUT1 deficiency syndrome is caused by mutations in the SLC2A1 gene. This gene provides instructions for producing a protein called the glucose transporter protein type 1 (GLUT1). The GLUT1 protein is embedded in the , where it transports a simple sugar called glucose into cells from the blood or from other cells for use as fuel. In the brain, the GLUT1 protein is involved in moving glucose, which is the brain's main energy source, across the blood-brain barrier. The blood-brain barrier acts as a boundary between tiny blood vessels ( ) and the surrounding brain tissue; it protects the brain's delicate nerve tissue by preventing many other types of molecules from entering the brain. The GLUT1 protein also moves glucose between cells in the brain called glia, which protect and maintain nerve cells (neurons). SLC2A1 gene mutations reduce or eliminate the function of the GLUT1 protein. Having less functional GLUT1 protein reduces the amount of glucose available to brain cells, which affects brain development and function. Learn more about the gene associated with GLUT1 deficiency syndrome Brockmann K. The expanding phenotype of GLUT1-deficiency syndrome. Brain Dev. 2009 Continue reading >>

An Open-label Trial Of Triheptanoin In Patients With Glucose Transporter Type-1 Deficiency Syndrome (glut1ds)

An Open-label Trial Of Triheptanoin In Patients With Glucose Transporter Type-1 Deficiency Syndrome (glut1ds)

Study Description Study Design Arms and Interventions Outcome Measures Eligibility Criteria Contacts and Locations More Information This study is being done to assess the safety and long-term efficacy of triheptanoin in pediatric patients with Glut1 DS over a 5-year treatment period. Glut 1 is a protein that helps transport glucose to the brain. Glucose is the brain's primary source of energy. Glut 1 DS prevents this protein from being effectively produced, causing deprivation of energy to the neurons of the of the brain. Glut1 DS is a severely debilitating disease characterized by seizures, developmental delay and movement disorder. There are currently no approved treatments specific to Glut1 DS. Treatment generally includes medications for control of seizures. The use of a ketogenic diet can be effective in controlling seizures when medications are ineffective or provide insufficient control. However, the ketogenic diet may be very difficult for patients to maintain for long periods of time, and there may be negative secondary long-term effects of ketogenic diet.. Triheptanoin is metabolized to molecules that can provide an alternative energy source to the brain, and appears to help in controlling seizures without many of the difficulties of the ketogenic diet. Eligible patients may be those who have been diagnosed with GLUT1 DS, and have discontinued or are not currently on ketogenic diet, or are able to tolerate triheptanoin if they have been treated or are currently being treated with triheptanoin and do not qualify for any other clinical trial. Triheptanoin is proposed for the treatment of seizures in glucose transporter type-1 deficiency syndrome (Glut1 DS). Glut1 DS is a rare disease with an estimated US prevalence of ~3,300. The proposed study is an open-label Continue reading >>

Glucose Transporter Type 1 Deficiency Syndrome

Glucose Transporter Type 1 Deficiency Syndrome

Glucose transporter type 1 deficiency syndrome Glucose transporter type 1 deficiency syndrome GLUT1 deficiency syndrome; Encephalopathy due to GLUT1 deficiency; Glucose transport defect, blood-brain barrier; GLUT1 deficiency syndrome; Encephalopathy due to GLUT1 deficiency; Glucose transport defect, blood-brain barrier; De Vivo disease; GLUT-1 deficiency syndrome; Glucose transporter protein syndrome; GLUT1 DS; G1D See More condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent ) and involuntary eye movements. Affected people may also have (unusually small head size) that develops after birth, . Approximately 10% of affected people have the "non-epileptic" form of GLUT1 deficiency syndrome which is associated with all the typical symptoms of the condition without seizures. [1] [2] GLUT1 deficiency syndrome is caused by changes ( manner. Although there is currently no cure for GLUT1 deficiency syndrome, a special diet (called a ketogenic diet ) may help alleviate symptoms. [3] The most common form of glucose transporter type 1 deficiency (GLUT1 deficiency syndrome), called the classic type, may be characterized by: [1] [3] [2] (unusually small head size) that develops after birth Movement abnormalities (i.e. involuntary eye movements, Other signs and symptoms may include headaches, confusion, loss of energy and/or myoclonus (muscle twitches). [1] Approximately 10% of affected people have the non-epileptic form of GLUT1 deficiency syndrome. This form is associated with all the typical symptoms of the condition without seizures. [1] [3] This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same dise Continue reading >>

Glut1 Deficiency - Wikipedia

Glut1 Deficiency - Wikipedia

GLUT1 deficiency, also known as De Vivo disease, is an autosomal dominant , genetic metabolic disorder associated with a deficiency of GLUT1 , the protein that transports glucose across the blood brain barrier [1] also known as Glucose transporter type 1 deficiency syndrome (GLUT1-DS). Glucose Transporter Type 1 Deficiency Syndrome has an estimated birth incidence of 1 in 90,000. [2] This birth incidence translates to an estimated prevalence of 3,000 to 7,000 in the U.S. [2] Glut1 deficiency is characterized by an array of signs and symptoms including deceleration of head growth also known as microcephaly , mental and motor developmental delays, infantile seizures refractory to anticonvulsants, ataxia , dystonia, dysarthria, opsoclonus, spasticity, and other paroxysmal neurologic phenomena. Individuals with the disorder generally have frequent seizures (epilepsy) beginning in the first months of life. In newborns, the first sign of the disorder may be involuntary eye movements that are rapid and irregular. [3] Patients typically begin to experience seizures between 36 months of age, but some occur much later. [4] Other seizure types may occur, including generalized tonic clonic, focal, myoclonic, atypical absence, atonic, or unclassified. [4] Mothers of infants with this disorder usually have uneventful pregnancies and deliveries, with the child appearing normal and within typical birth weight and length ranges. Infants with GLUT1 deficiency syndrome have a normal head size at birth, but the growth of the brain and skull is slow, in severe cases resulting in an abnormally small head size. [3] Typically, seizures start between one and four months in 90% of cases with abnormal eye movements and apneic episodes preceding the onset of seizures in some cases. [5] Seizures u Continue reading >>

Omim Entry - # 606777 - Glut1 Deficiency Syndrome 1; Glut1ds1

Omim Entry - # 606777 - Glut1 Deficiency Syndrome 1; Glut1ds1

A number sign (#) is used with this entry because GLUT1 deficiency syndrome-1 (GLUT1DS1) is caused by heterozygous mutation in the gene encoding the GLUT1 transporter (SLC2A1; 138140 ) on chromosome 1p34. Rare cases of GLUT1 deficiency caused by homozygous or compound heterozygous mutation in the SLC2A1 gene have been reported. Allelic disorders with overlapping features include GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis ( 608885 ), GLUT1 deficiency syndrome-2 (GLUT1DS2; 612126 ), dystonia-9 (DYT9; 601042 ), and idiopathic generalized epilepsy-12 (EIG12; 614847 ). GLUT1 deficiency syndrome-1 is a neurologic disorder showing wide phenotypic variability. The most severe 'classic' phenotype comprises infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, motor incoordination, and spasticity. Onset of seizures, usually characterized by apneic episodes, staring spells, and episodic eye movements, occurs within the first 4 months of life. Other paroxysmal findings include intermittent ataxia, confusion, lethargy, sleep disturbance, and headache. Varying degrees of cognitive impairment can occur, ranging from learning disabilities to severe mental retardation. Hypoglycorrhachia (low CSF glucose, less than 40 mg/dl) and low CSF lactate are essentially diagnostic for the disorder. As more cases with GLUT1 deficiency syndrome were described, the phenotype was broadened to include individuals with ataxia and mental retardation but without seizures, individuals with dystonia and choreoathetosis, and rare individuals with absence seizures and no movement disorder. The disorder, which results from a defect in the GLUT1 glucose transporter causing decreased glucose concentration in the central nervous system, is part Continue reading >>

Glut1 Deficiency Syndrome 2013: Current State Of The Art - Sciencedirect

Glut1 Deficiency Syndrome 2013: Current State Of The Art - Sciencedirect

Volume 22, Issue 10 , December 2013, Pages 803-811 Author links open overlay panel ValentinaDe Giorgis PierangeloVeggiotti Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport into the brain. The classic GLUT1DS patient presents with infantile seizures (resistant to traditional seizure medications), developmental delay, acquired microcephaly, hypotonia, spasticity, and a complex movement disorder consisting of ataxia and dystonia. However, over the years, other clinical manifestations have been described, such as paroxysmal exertion-induced dystonia with or without seizures, choreoathetosis, alternating hemiplegia, and other paroxysmal events, such as intermittent ataxia, dystonia, and migraine. At the current state of the art in understanding of GLUT1DS, classifying the disease phenotype as classical or non-classical seems to be of limited clinical utility. It seems more appropriate to think in terms of a broad clinical spectrum in which we can observe intellectual impairment, acquired microcephaly, epilepsy, and movement disorders characterized by different clinical manifestations and degrees of severity. Lumbar puncture, a simple investigation, should be considered the first diagnostic step that, moreover, is feasible worldwide. Thereafter, mutational analysis of the solute carrier family 2 (facilitated glucose transporter) member 1 (SLC2A1) gene should be performed in patients with highly suggestive clinical findings and low cerebrospinal fluid glucose (<50mg/dl or ratio <0.60). Early diagnosis is critical because it allows prompt initiation of treatment with a ketogenic diet (KD). Childhood is the critical period for treatment of GLUT1DS: early diagnosis is crucial for an effective etiological therapy. KD treatment c Continue reading >>

Glucose Transporter Type 1 Deficiency Syndrome

Glucose Transporter Type 1 Deficiency Syndrome

Signs & Symptoms Glut1 deficiency syndrome represents a spectrum of disease. The symptoms and severity can vary dramatically from one individual to another. Mild cases can go undiagnosed, while other cases can potentially lead to severe, debilitating complications. It is important to note that affected individuals may not have all of the symptoms discussed below or may have less severe symptoms. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. The classic expression of Glut1 deficiency syndrome is the development of seizures during infancy usually during the first six months of life. The type, frequency and severity of seizures vary from one individual to another. In some individuals, seizures may be a daily occurrence; in other individuals, seizures may be separated by days, weeks or months. Five different seizure types can occur including generalized tonic or clonic, myoclonic, atypical absence, atonic and unclassified. Generalized tonic-clonic seizures (once known as grand mal seizures), usually last a minute or more and are characterized by stiffening of the limbs (tonic phase) and then repeated jerking of the limbs and face (clonic phase). Generalized tonic-clonic seizures can cause people to momentarily lose consciousness, bite their lips, or drool. Myoclonic seizures are characterized by brief muscle contractions that cause abnormal, jerky movements. Atypical absence seizures are associated with a brief period of unconsciousness usually marked by unresponsive staring. Absence seizures usually begin and end abruptly and the affected individual usually resumes activity with no memory of the episode. Absence seizures do not cause convulsions and may be so mild that they go unno Continue reading >>

Brain Microvasculature Defects And Glut1 Deficiency Syndrome Averted By Early Repletion Of The Glucose Transporter-1 Protein

Brain Microvasculature Defects And Glut1 Deficiency Syndrome Averted By Early Repletion Of The Glucose Transporter-1 Protein

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein Nature Communications volume 8, Articlenumber:14152 (2017) Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose transporter-1 (Glut1) protein, disrupt brain function and cause the neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS). There is little to suggest how reduced Glut1 causes cognitive dysfunction and no optimal treatment for Glut1 DS. We used model mice to demonstrate that low Glut1 protein arrests cerebral angiogenesis, resulting in a profound diminution of the brain microvasculature without compromising the bloodbrain barrier. Studies to define the temporal requirements for Glut1 reveal that pre-symptomatic, AAV9-mediated repletion of the protein averts brain microvasculature defects and prevents disease, whereas augmenting the protein late, during adulthood, is devoid of benefit. Still, treatment following symptom onset can be effective; Glut1 repletion in early-symptomatic mutants that have experienced sustained periods of low brain glucose nevertheless restores the cerebral microvasculature and ameliorates disease. Timely Glut1 repletion may thus constitute an effective treatment for Glut1 DS. Mutations in the SLC2A1 gene evolve into the rare but often incapacitating pediatric neurodevelopmental disorder, Glut1 deficiency syndrome (Glut1 DS) 1 , 2 . Initially considered exceptionally rare, reports that SLC2A1 mutations account for 1% of idiopathic generalized epilepsies and the recognition of an expanding Glut1 DS phenotype suggest that there may be in excess of 11,000 individuals afflicted with the disorder in the US alone 3 , 4 . Patients with classic Glut1 DS suffer low brain gluc Continue reading >>

Ux007 | Substrate Replacement | Synthetic Triglyceride | Glut1 Ds | Ultragenyx

Ux007 | Substrate Replacement | Synthetic Triglyceride | Glut1 Ds | Ultragenyx

UX007 (a highly purified, synthetic seven carbon fatty acid triglyceride) is an investigational pharmaceutical-grade, specially designed synthetic triglyceride compound, created via a multi-step chemical process and purified, which is in development for glucose transporter type 1 deficiency syndrome (Glut1 DS). Glut1 DS is a severely debilitating disease characterized by seizures, developmental delay, and movement disorders. Glut1 DS is caused by a genetic defect in the transport of glucose into the brain. Because glucose is the primary source of energy for the brain, this disorder results in a chronic state of energy deficiency in the brain. There are currently no FDA approved treatments specific to Glut1 DS, though patients with the seizure phenotype are typically on the ketogenic diet. Patients are also typically treated with antiepilepctic drugs (AEDs) for seizure control, although the seizures of Glut1 DS may not respond well to AEDs. Ultragenyx has licensed rights to UX007 from Baylor Research Institute and UniQuest. UX007 is metabolized into heptanoate, which is intended to diffuse across the blood-brain barrier and provide energy to the brain. Heptanoate can be further metabolized to four- and five-carbon ketone bodies in the liver that can also cross the blood-brain-barrier to potentially provide an additional energy source to the brain. Heptanoate and five-carbon ketone bodies may also regenerate new glucose in the brain, which is deficient in patients with Glut1 DS. Continue reading >>

Glucose Transporter Type 1 Deficiency Syndrome

Glucose Transporter Type 1 Deficiency Syndrome

Glucose Transporter Type 1 Deficiency Syndrome It is possible that the main title of the report Glucose Transporter Type 1 Deficiency Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Glucose transporter type 1 (Glut1) deficiency syndrome is a rare genetic metabolic disorder characterized by deficiency of a protein that is required for glucose (a simple sugar) to cross the blood - brain barrier. The most common symptom is seizures ( epilepsy ), which usually begin within the first few months of life. However, the symptoms and severity of Glut1 deficiency syndrome can vary substantially from one person to another. For example, some affected individuals may not develop epilepsy . Additional symptoms that can occur include movement disorders, developmental delays, and varying degrees of cognitive impairment and speech and language abnormalities. Glut1 deficiency syndrome is caused by mutations in the SLC2A1 gene and is inherited as an autosomal dominant trait. Rarely, the condition also may be inherited as an autosomal recessive trait. Glut1 deficiency syndrome does not respond to traditional epilepsy treatments (e.g., anti-seizure medications ), but has been successfully treated with the ketogenic diet . Glut1 deficiency syndrome was first described in the medical literature in 1991 by Dr. De Vivo, et al. The disorder is sometimes known as De Vivo disease. Glut1 deficiency syndrome is classified as an epileptic encephalopathy. Epileptic encephalopathies are a group of disorders in which seizure activity leads to progressive psychomotor dysfunction. Paroxysmal exercised-induced dyskinesia, also known as dystonia 18, is now considered part of the Glut1 deficiency syndro Continue reading >>

More in insulin