Phenylketonuria

there are variant types of PKU for which treatment differs. If a child is diagnosed as having phenylketonuria, then examination by a metabolic specialist would be beneficial, as well as an evaluation by a nutritionist and a genetic counselor. Screening and visits with medical professionals should be taken very seriously because with each passing day the chance of irreversible mental damage increases. The development of a screening test for PKU was a huge step toward preventing mental retardation as a result of a metabolic disorder, but sadly there are more than 100 more rare metabolic disorders that lead to mental retardation for which newborn screening is unavailable. Treatment should be obtained immediately after a child is diagnosed with phenylketonuria. There are two different types of treatment that the child will require. The most important form of treatment will be diet, followed by medical care. Mental retardation can usually be prevented if a phenylalanine free diet is started before the fourth week of life. The goal of PKU treatment is to maintain the blood level of phenylalanine between 2 and 10 mg/dl. Some phenylalanine is needed for growth but in much lower amounts than normal. Certain symptoms will be present if the child is not getting the necessary amount of PHE and these include mental and physical sluggishness, loss of appetite, anemia, rashes, and diarrhea. A PKU diet should be prescribed by a doctor, designed by a dietician, administered by parents, and monitored and changed over time as the child’s nutritional needs change due to growth, changing tastes, and eating habits. Foods such as meat, fish, chicken, turkey, milk, cheese, ice cream, yogurt, eggs, beans, nuts, peanut butter, and Nutra sweet are not allowed because they are high in phenylalanine. Fruits, fruit juices, vegetables, vegetable juices, breads, cereals, crackers, potato chips, popcorn, and other special low protein foods are allowed but...