, there is not any miracle medication that a child can take when they are young that would rid them of phenylketonuria, but having this disorder is not life threatening and thousands of people are diagnosed each year with this disease and live long and normal lives (minus the phenylalanine in the diet). Since the diet and constant blood testing to determine the level of phenylalanine in the blood is started so early in life, it becomes second nature to the child and usually is not a problem for the child growing up. The next area of concern for females with phenylketonuria is called maternal PKU. Women with PKU who have been properly treated throughout childhood and adolescence can develop normally, lead normal lives, and have normal I.Q.s. When a woman with PKU is ready to have children, she should speak to a metabolic specialist at least six months before trying to become pregnant to discuss treatment and follow-up exams. Women who go on a special diet to control the phenylalanine levels in their blood before, during, and after her pregnancy can have unaffected babies. The phenylalanine level of a pregnant women should be monitored weekly to ensure that it is in a safe range for the baby. The recommended phenylalanine level for pregnant women is in the range of 2-6 mg/dl. However, if the women with PKU are no longer on their diet and decide to have children, high blood levels of phenylalanine are devastating to the fetus. In untreated cases, infants born to untreated women have 93% risk for mental retardation and a 72% risk for microcephaly. Low birth weight, characteristic facial features, or congenital heart disease are other results of untreated pregnancies. This is very serious since these birth defects due to an uncontrolled diet in the mother are separate from the actual inherited condition. Most moms with PKU will not have kids with PKU. Brain and other damage happens before birth to babies born to PKU moms and cannot...
