what is pompe disease?
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Pompe Disease Pompe Disease. Pompe disease is a hereditary disorder that disables the heart and muscles. It is rare, most often times fatal, and found 1 in every 40,000 births. The disorder is caused by mutations in the gene that makes the enzyme alpha-glucosidase (GAA), which reduces or eliminates the enzyme alpha-glucosidase.
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Pompe disease The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects.
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- Answer by Jake Wayne. Confidence votes 42.6K. Jem breaks his arm when Bob Ewell attacks Scout and him on their way home after the Halloween pageant, but it isn't clear how exactly it happens; Jem just comes out of the struggle with a broken arm. Bob Ewell broke Jem's arm when he pushed Jem to the ground.
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Amazon will donate 0.5% of your purchase to support NORD.Sign up today!Add NORD to Your Account Gene therapy is also being studied as another approach to therapy for individuals with Pompe disease. In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the produce of the active enzyme and prevent the development and progression of the disease in question.
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How Do You Get Rid of a Water Stain on Fabric? Full Answer. 1  Prepare the fabric for stain removal Spread out a clean towel on an ironing board. The towel should be white or a light color for the best result. 2  Moisten the stained area Moisten the stained area thoroughly using a clean, wet cloth. 3  Dry the fabric Use an iron to dry the dampened area.
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- This breakdown process occurs in small compartments within the cells called lysosomes. One particular enzyme, acid alpha-glucosidase, is responsible for breaking down glycogen in the lysosome. Glycogen is a form of sugar that is used for energy storage and is often found in muscle cells. In patients with Pompe disease, this enzyme is either missing, deficient or not functioning properly.
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Glycogen storage disease type II The disease is caused by genetic mutations that lead to deficiency or absence of the enzyme acid alpha-glucosidase (GAA), also known as acid maltase. This enzyme is required to breakdown glycogen, a stored sugar into glucose. Pompe disease exists in three forms-infantile, juvenile, and adult-onset.
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APES Diseases Dysentery is an inflammation of the intestine causing diarrhea with blood. Other symptoms may include fever, abdominal pain, and rectal tenesmus (a feeling of incomplete defecation).
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Overview Pelvic inflammatory disease (PID) is an infection of the female upper genital tract, including the womb, fallopian tubes and ovaries. PID is a common condition, although it's not clear how many women are affected in the UK. It mostly affects sexually active women aged 15 to 24.
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Peripheral Arterial Disease  (PAD) What Is Peripheral Artery Disease? Peripheral artery disease (P.A.D.) is a disease in which plaque builds up in the arteries that carry blood to your head, organs, and limbs. Plaque is made up of fat, cholesterol, calcium, fibrous tissue, and other substances in the blood.
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- Educational Resources (5 links) 1  Disease InfoSearch: Glycogen Storage Disease Type 2. 2  MalaCards: neurological manifestations of pompe disease. 3  Merck Manual Consumer Version: Disorders of Carbohydrate Metabolism. 4  My46 Trait Profile. 5  Orphanet: Glycogen storage disease due to acid maltase deficiency.
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- Hansen's disease (also known as leprosy) is a long-lasting infection caused by bacteria. The disease was once feared as a highly contagious and devastating disease.
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Pelvic inflammatory disease [edit on Wikidata] Pelvic inflammatory disease or pelvic inflammatory disorder (PID) is an infection of the upper part of the female reproductive system namely the uterus, fallopian tubes, and ovaries, and inside of the pelvis. Often there may be no symptoms. Signs and symptoms, when present may include lower abdominal pain, vaginal discharge, fever, burning with urination, pain with sex, or irregular menstruation. Untreated PID can result in long term complications including infertility, ectopic pregnancy, chronic pelvic pain, and cancer. The disease is caused by bacteria that spread from the vagina and cervix. Infections by Neisseria gonorrhoeae or Chlamydia trachomatis are present in 75 to 90 percent of cases.
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Pompe disease The late onset form of Pompe disease is due to a partial deficiency in alpha-glucosidase. Symptoms can begin at any time, from childhood to adulthood. In this form of the disease, muscle weakness eventually leads to breathing problems and death from lung failure. The heart may be involved, but it will not be enlarged.
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- Disease Topics Related To Pompe disease. Research the causes of these diseases that are similar to, or related to, Pompe disease: 1  Glycogen storage disorder. 2  Metabolic disorder. 3  Hepatomegaly. 4  Respiratory distress. 5  Restrictive cardiomyopathy. 6  more related diseases...».
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leprosy leprosy (Hansen's disease) (lep-rŏ-si) n. a chronic disease, caused by the bacterium Mycobacterium leprae, that affects the skin, mucous membranes, and nerves. It is confined mainly to the tropics and is transmitted by direct contact. Symptoms mainly involve the skin and nerves.
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Glycogen storage disease type II Glycogen storage disease type II (also called Pompe disease /ˈpɒmpə/ or acid maltase deficiency) is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body.
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Brain Structures and their Functions The Cerebellum: The cerebellum, or little brain, is similar to the cerebrum in that it has two hemispheres and has a highly folded surface or cortex. This structure is associated with regulation and coordination of movement, posture, and balance.erve cells make up the gray surface of the cerebrum which is a little thicker than your thumb. White nerve fibers underneath carry signals between the nerve cells and other parts of the brain and body. The neocortex occupies the bulk of the cerebrum.
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Diseases from horses Leptospirosis in people: Leptospirosis is a disease caused by bacteria called Leptospira that infect both people and a wide range of animals. It occurs worldwide but is more common in temperate and tropical areas of the world.
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Systemic lupus erythematosus Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body.LE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs. SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss.
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Leprosy Leprosy, also known as Hansen's disease (HD), is a chronic infection caused by the bacteria Mycobacterium leprae and Mycobacterium lepromatosis.Initially, infections are without symptoms and typically remain this way from 5 to as long as 20 years.eprosy in Tahiti, circa 1895. Leprosy is primarily a granulomatous disease of the peripheral nerves and mucosa of the upper respiratory tract; skin lesions (light or dark patches) are the primary external sign. If untreated, leprosy can progress and cause permanent damage to the skin, nerves, limbs, and eyes.
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- Peyronie's disease. Peyronie's disease or Peyronie disease (/peɪroʊˈniː/), also known as induratio penis plastica (IPP) or chronic inflammation of the tunica albuginea (CITA), is a connective tissue disorder involving the growth of fibrous plaques in the soft tissue of the penis affecting an estimated 5% of men.
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- Leprosy, also known as Hansen's disease (HD), is a chronic infection caused by the bacteria Mycobacterium leprae and Mycobacterium lepromatosis. Initially, infections are without symptoms and typically remain this way from 5 to as long as 20 years.eprosy, also known as Hansen's disease (HD), is a chronic infection caused by the bacteria Mycobacterium leprae and Mycobacterium lepromatosis. Initially, infections are without symptoms and typically remain this way from 5 to as long as 20 years.
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Systemic lupus erythematosus Systemic lupus erythematosus (SLE), also known simply as lupus, is an autoimmune disease in which the body's immune system mistakenly attacks healthy tissue in many parts of the body. Symptoms vary between people and may be mild to severe.
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Pompe disease Pompe disease: Introduction. Pompe disease: A rare inherited biochemical disorder where insufficient maltase acid results in accumulation of glycogen. The condition is often fatal in infants, causes mental retardation, hypotonia and a short life in children and progressive muscle weakness in adults.
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- Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells.