Genetic Diseases

Phenylketonuria

Phenylketonuria is an inherited disorder of metabolism that can cause mental retardation if not treated. In PKU, the body can’t process a portion of the protein called phenylalanine (Phe), which is in almost all foods. If the Phe level gets too high, the brain can become damaged. All babies born in U.S. hospitals are now routinely tested for PKU soon after birth, making it easier to diagnose and treat them early. The incidence of this disease varies widely, but averages about one in every 15,000 births.

Turner’s Syndrome

Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. This occurs in one out of every 2500 female births.