A Fabry is a genetic enzyme disorder caused by deficiency of alpha-galactosidase A, needed for disposing of waste cellular fatty acids. This builds up within skin, eye, kidney, heart, peripheral nerves and brain, causing progressively severe disorder. Babies show few effects but, as more cells are damaged, symptoms appear. Affecting males in many racial groups, the gene responsible is on the X chromosome, with almost 200 mutations. Female carriers exist exhibiting mild-to-moderate symptoms, which may progress in middle age. Symptoms are variable, affecting any organ with burning pain and tingling, which may be triggered by temperature change, fever, sun or physical exertion. Fatigue and weakness are common. Reduced sweating, extremity swelling, visual changes, arrhythmias, angina, heart failure and brain damage may occur, with gastrointestinal upset, kidney damage and hypertension. The…
