Glucose Transporter Type 1 Deficiency Syndrome.
Can also be known as Glut1DS, G1D, De Vivo Disease.
Glut1 Deficiency also known as Glucose Transporter Type 1 Deficiency Syndrome, G1D, Glut1 DS, De Vivo Disease a rare genetic metabolic disorder characterized by deficiency of a protein (Glut1) that is required for glucose (a simple sugar and the primary energy source) to cross the blood-brain barrier. The resulting brain energy crisis can create a spectrum of symptoms including seizures, complex movement disorders, speech and language disorders, and developmental delays.
Rapid, repetitive, multidirectional eye movements often accompanied by a head movement in the same direction. These events sometimes occur in very young Glut1 Deficienty patients and resemble opsoclonus or nystagmus. They are often the first symptom noticed by family members.
A combination of problems that may include difficulty sustaining attention or focus, hyperactivity, and impulsive behaviour.
A filtering and protective mechanism of the capillaries that carry blood to the brain and spinal cord tissue, blocking the passage of certain substances.
An energy-rich ketone body derived from fat which can be utilized by tissues and cross the blood-brain barrier during periods of glucose deficiency. It can be measured in blood and urine.
An altered state of consciousness characterized by inability to engage in orderly thought or by lack of power to distinguish, choose, or act decisively.
Not reaching cognitive or physical developmental milestones at the expected time.
Difficulty swallowing, taking more time and effort to move food or liquid from mouth to stomach.
A medical condition with recurring seizures.
Sporadic, having symptom-free periods that alternate with the presence of symptoms.
an inheritable medical condition caused by a DNA abnormality.
Temporary weakness or paralysis on one side of the body, sometimes alternating sides, sometimes on both sides, or in specific parts of the body.
Abnormally increased breakdown of red blood cells.
A high-fat, adequate-protein, low-carbohydrate dietary therapy that causes the body to burn fat for energy in the absence of glucose. Ketogenic diets are the recommended treatment for Glut1 Deficiency, since ketones can cross the blood brain barrier and provide energy and nourishment as an alternative to glucose. Classical, Modified Ketogenic, Modified Atkins, MCT Oil Diet, and Low Glycemic Index Treatment are all different versions of ketogenic diets. Please visit https://www.matthewsfriends.org/ for more information on ketosis and the different types of diets used to achieve it.
Substances that are made when the body breaks down fat for energy or fuel as opposed to glucose. Ketone bodies produced are acetone, acetoacetate, and beta-hydroxybutyrate.
A metabolic process that occurs when the body does not have enough glucose for energy. Fats are broken down for energy, resulting in the production of acids called ketones within the body.
Neurologically-based problems that affect the brain’s ability to receive, process, analyze, or store information. Learning disabilities can interfere with learning basic skills such as reading, writing and/or math and with higher level skills such as organization, time planning, abstract reasoning, long or short term memory and attention.
Reduced level of consciousness marked by listlessness, drowsiness, and apathy.
A state of low muscle tone often accompanied by reduced muscle strength. Muscles may seem “floppy”, joints may seem loose or overly flexible, and poor posture, coordination, balance, and body awareness can result.
A procedure to collect and analyze the fluid (cerebrospinal fluid, or CSF) surrounding the brain and spinal cord. During a lumbar puncture, a needle is carefully inserted into the spinal canal low in the back (lumbar area) and samples of spinal fluid are collected.
A ketogenic dietary therapy that is less restrictive than the classical ketogenic diet. It is a mix between the Atkins diet and a classical ketogenic approach, and approximates a 1:1 ratio of fat to carbohydrate and protein.
Fatty acids composed of 6–12 carbon atoms. Oils can contain short chain, medium chain, or long chain fatty acids. Most oils are a combination of all three types. Medium chain oils are thought to be more ketogenic.
Complex headaches that are usually characterized by severe pain on one or both sides of the head, an upset stomach, and, at times, disturbed vision.
A neurological condition that occurs when the head circumference is smaller than normal, associated with impaired brain growth and development.
Neurological conditions that affect the speed, fluency, quality, and ease of movement.
A sudden attack, recurrence, or intensification of a disease.
Sudden disruption of normal brain electrical activity and cell communication. Recurrent seizures are known as epilepsy. Seizures may also be classed as motor or non-motor, depending on whether physical movement is involved.
Conditions that cause problems creating or forming the speech sounds needed to communicate with others.
A medium chain triglyceride oil (a fat) uniquely composed of an odd-numbered fatty acid chain. Triheptanoin is currently under investigation as a therapy for Glut1 Deficiency.