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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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Aromatase Excess Syndrome (AES)

Description Aromatase excess syndrome is a condition characterized by elevated levels of the female sex hormone estrogen in both males and females. Males with aromatase excess syndrome experience breast enlargement (gynecomastia) in late childhood or adolescence. The bones of affected males grow and develop more quickly and stop growing sooner than usual (advanced bone age). As a result males have an early growth spurt, typically during late childhood, with short stature as an adult. Affected females rarely show signs and symptoms of the condition, but they may have increased breast growth (macromastia), irregular menstrual periods, and short stature. The ability to have children (fertility) is usually normal in both males and females with aromatase excess syndrome. Causes Rearrangements of genetic material involving the CYP19A1 gene cause aromatase excess syndrome. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones ca...
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African Iron Overload

Disease Overview Summary African iron overload is a rare disorder characterized abnormally elevated levels of iron in the body. The name originates from the initial description of this entity in sub-Saharan Africa, in communities where affected individuals drink a traditional, homemade beer that contains a high amount of iron. Symptoms may vary from case to case but can include the accumulation of fibrous tissue (fibrosis) in the liver and, eventually, scarring of the liver (cirrhosis). The exact cause of African iron overload is unknown, but researchers believe that a combination of dietary and genetic factors result in the development of the disorder. Introduction Researches originally believed that the popular, iron-rich beer caused cases of African iron overload. However, many individuals that drank the beer did not develop the disorder and some individuals that did not drink the beer did develop it. This led researchers to speculate that a mutation of a gene or genes involved in t...
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