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Glycogen Storage Disease Type III

Glycogen Storage Disease Type III Overview The human diet contains 3 macronutrients that can be stored by the body as energy: carbohydrates (as the natural carbohydrate polymer glycogen, in mainly the liver and muscle), protein (as muscle, the natural protein source of the body) and fat (in organs and fat tissue). There are at least 13 glycogen storage disease (GSD) subtypes, in which the energy stored as glycogen cannot be adequately produced or broken down. The liver GSD subtypes cause fasting intolerance (types 0, Ia, Ib, III, VI, IX and XI) or liver failure (type IV), with or without muscle symptoms. The fasting induced low blood glucose concentrations decrease the energy supply by the liver to organs like the brain. The ketotic GSD subtypes 0, III, VI, IX, and XI are associated with fasting ketotic hypoglycemia. In these patients, the breakdown of glycogen (glycogenolysis) is defective. Their fasting intolerance is considered relatively mild compared to GSD type I patients, in who...
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Andermann syndrome

Andermann syndrome Overview    Andermann syndrome, also known as ACCPN, is a rare, severe neurodegenerative genetic disorder. It primarily features the underdevelopment or absence of the tissue connecting the two halves of the brain (corpus callosum), along with progressive muscle weakness and intellectual disability. Symptoms A Neurological Complications Progressive Neuropathy : Early muscle weakness (hypotonia) transitions into progressive motor deterioration, causing severe muscle wasting (amyotrophy) and flaccid tetraplegia. Affected individuals usually lose the ability to walk and become wheelchair-bound by adolescence. Cranial Nerve Defects: Damage to cranial nerves can cause facial muscle weakness, drooping eyelids (ptosis), and gaze palsy (difficulty moving the eyes in certain directions). Seizures: Epilepsy and abnormal electrical activity in the brain occur in many patients.Sensory Loss: Patients suffer from absent or severely diminished sensory responses (areflexia...
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Arginine: Glycine Amidinotransferase Deficiency

Arginine: Glycine Amidinotransferase Deficiency Overview Arginine: glycine amidinotransferase deficiency (AGAT) is one of the three cerebral creatine deficiency syndromes (CCDS). These conditions are inborn errors of creatine metabolism which interrupt the formation or transport of creatine. Creatine is necessary to use properly adenosine triphosphate (ATP), which provides energy to all cells in the body. Symptoms The severity of AGAT varies from patient to patient. People with AGAT typically present with mild to moderate intellectual disabilities, delayed speech and may have seizure activity. Some individuals may develop autistic like behaviors. Children with AGAT may not gain weight and grow at the expected rate (failure to thrive) and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily. Causes AGAT is the first step of creatine production, resulting in the formation of guanidinoacetate, the...
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Aspartylglucosaminuria

Aspartylglucosaminuria Overview Aspartylglucosaminuria (AGU) is a rare genetic disorder that affects the body’s ability to break down certain sugars due to a deficiency of the enzyme glycosylasparaginase. Without this enzyme, sugars build up in the body which can cause various health issues, especially affecting brain function. The signs and symptoms of AGU usually become noticeable in childhood and progress over time. Babies appear normal at birth but during childhood (ages 0 to 12) they may learn slowly, have mild intellectual disabilities, be taller and have a larger head compared to their peers. During puberty and early adolescence (ages 13 to 25), learning difficulties become more severe and some skills may decline. Many adults with this condition have severe intellectual disabilities and may need help with daily tasks, often becoming quieter and, in some people, aggressive if disturbed. Typically, adults with AGU also have shorter stature and smaller heads. Aspartylglucosaminuria...
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Neurocysticercosis

Neurocysticercosis What Is Neurocysticercosis? Neurocysticercosis is a parasitic infection of your brain and spinal cord caused by the pork tapeworm (Taenia solium). You can get this infection by swallowing tapeworm eggs, often from contaminated food, water or surfaces. Once inside your body, the eggs hatch. The larvae (baby parasites) travel through your bloodstream and can reach your brain. There, they form cysts. These are fluid-filled sacs that hold the parasite. These cysts can press on important parts of your brain. This pressure can cause seizures, long-lasting headaches or other serious symptoms It might be scary to think about parasites in your brain. But there are treatments that can kill the parasites or remove problematic cysts so you can feel better. Symptoms  Neurocysticercosis symptoms Symptoms depend on how many cysts are in your brain and where they are. Sometimes, there are no symptoms at all. Other times, symptoms are very bothersome or even serious. They may inc...
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Brain Fog

Brain Fog Overview “Brain fog” is a term for a range of symptoms that cause cognitive impairment. This affects your ability to think clearly, focus, concentrate, remember and pay attention. Like its name, these symptoms cloud your mind and make it difficult to perform routine tasks like holding a conversation, listening to instructions or remembering the steps of something you’re doing. Brain fog, also called mental fog, can happen after an illness, as a side effect of a medication (like chemotherapy) or as a symptom of an underlying condition. A healthcare provider can help you determine what’s causing brain fog to help you feel more like yourself. What does brain fog feel like? Brain fog can feel slightly different for each person. You may experience the following with brain fog: Difficulty concentrating or focusing. Confusion. Fatigue. Forgetfulness. Losing your train of thought. Mental exhaustion. Not having the right words. Slow thought process and reaction time. Trouble paying at...
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Autoimmune Diseases

  Autoimmune Diseases Overview Autoimmune diseases are health conditions that happen when your immune system attacks your body instead of defending it. Healthcare providers sometimes call them autoimmune disorders. Usually, your immune system is like your body’s built-in security system. It automatically detects substances that shouldn’t be in your body (like viruses, bacteria or toxins) and sends out white blood cells to eliminate them before they can damage your body or make your sick. If you have an autoimmune disease, your immune system is more active than it should be. Because there aren’t invaders to attack, your immune system turns on your body and damages healthy tissue. Autoimmune diseases are chronic conditions. This means if you have an autoimmune disease, you’ll probably have to manage it and the symptoms it causes for the rest of your life. Types of autoimmune diseases There are more than 100 different autoimmune diseases. They can affect almost any tissue or organ in ...
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