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| Gene product | Disease & symptoms | Current therapy |
| Adenosine deaminase | Severe
combined immunodeficiency. Loss of T & B cells |
Bone marrow transplant, adenosine deaminases replacement. |
| LDL-receptor | Familial hyper cholesterolemia, elevated blood serum cholesterol level, coronary artery disease | Diet, drugs, liver transplant |
| Glucocerebrosidase | Gaucher disease, Accumulation of glucocerebroside in macrophages causing liver, spleen and bone damage. | Symptomatic treatment, removal of spleen. Antibiotics, repairing bone damage, bone marrow transplantation, enzyme replacement. |
| Blood clotting Factor VIII | Hemophilia A, altered plasma protein that causes defective blood clotting, chronic internal bleeding into joints, excessive bleeding after wounding. | Concentration of factor VIII by transfusion. Requires continuous treatment. Risk of viral infections from transfusions. |
| Phenylalanine hydroxylase | Phenylketonuria. Excess phenylalanine in the blood stream of newborns causes mental retardation | Restriction of dietary phenylalanine |
| α-Antitrypsin | Emphysema. Deficiency of serum protein protease inhibitor, damage to lungs, cirrhosis of the liver | Replacement therapy, lowering environmental risks. |
| Cystic fibrosis transmembrane regulator | Cystic fibrosis multi-system disease, pancreatic insufficiency in some cases, intestinal blockage, blocked airways of the lung. | Antibiotics, physical clearing of the lungs, upgrading diet. |
| Ornithine transcarbamylase | Hyperammonemia urea cycle defects, ammonia accumulation, arginine deficiency. | Restricted protein diet, arginine supplemented diet, drugs, liver transplant. |
| Dystrophin | Duchenne muscular dystrophy (DME). Progressive muscle wasting. | Only supportive treatments, good nutrition. |
| β-globin | Sickle cell disease chronic anemia, multi-system disease, damage to spleen, heart, kidneys, liver and brain. | Blood transfusions, drugs, analgesics, bone marrow transplant. |
| Related Links | |
| Gene Therapy Introduction | |
| Genetic Counseling |
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