Tyrosinemia Overview In tyrosinemia, the body doesn't have an enzyme it needs [called fumarylacetoacetate hydrolase (FAH)] to metabolize tyrosine. Metabolism is a process in which our bodies break down substances as we use them for energy; in this case tyrosine. Tyrosine is an amino acid that is found in most proteins. When people with tyrosinemia break down protein, abnormal toxic break down products of tyrosine build up in their bodies. This causes progressive damage to the liver and kidneys, but mainly the liver. This is because the liver is normally the primary place tyrosine is metabolized. Tyrosinemia is hereditary; in order to have the disease, a child must get a mutation in the gene for tyrosinemia from each parent. In families where both parents carry a mutation, there is a one in four risk that a child will have tyrosinemia. There is now a genetic test available, so that couples at high risk of being carriers can determine their risk of having a child with tyrosinemia. Th...
Tuberous sclerosis Overview Tuberous sclerosis (TOO-bur-us skluh-ROH-sis), also called tuberous sclerosis complex (TSC), is an uncommon genetic disorder that causes tumors to develop in many parts of the body. These tumors are not cancer. Noncancerous tumors, also called benign tumors, are overgrowths of cells and tissue that are not expected. Symptoms vary widely, depending on where the growths develop and how big they get. Tuberous sclerosis is often first found during infancy or childhood. Sometimes tuberous sclerosis can have such mild symptoms that the condition isn't diagnosed until adulthood, or it's not diagnosed at all. Sometimes tuberous sclerosis causes serious disabilities. There is no cure for tuberous sclerosis, and the course of the disorder and how bad it gets can't be predicted. But treatments are available to manage symptoms. Symptoms Tuberous sclerosis symptoms are caused by noncancerous growths in parts of the body, most commonly in the skin, brain, eyes...