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The most well-known example of a human enzyme that deficiency leads to a severe disease is beta-amyloid, which is one of the hallmark proteins of Alzheimer’s disease. In humans, beta-amyloid is thought to cause a buildup of alpha-4-beta-7-integrin in the blood-brain barrier and interfere with blood-brain barrier permeability. This results in the accumulation of beta-amyloid protein in the brain, where it can form fibrils
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I used to have Andersen disease, a rare inherited disorder of the branching enzyme deficiency, and had the option of getting hips or knees replaced through an operation called osteotomy, which involves taking part of the femur (thighbone) to replace the outward-craning, bent leg that is the basis of the disease. The osteotomy had been done at a state hospital in a town I loved, and I had been waiting for the procedure to be done, which meant that I would no longer have to carry the

