Treatment for phenylketonuria

The treatment for phenylketonuria consists of a diet with low levels of phenylalanine, which is an amino acid that accumulates in the blood of phenylketonurics, causing problems such as mental retardation and seizures. Phenylketonuria has no cure and there are no drugs for this disease, and during treatment it is necessary to regularly monitor the values of phenylalanine in the blood.

The amount of phenylalanine that can be ingested varies according to the age and severity of the disease, and the foods rich in this amino acid are those sources of protein, such as meat, fish, milk and dairy products, eggs, wheat, soy and beans.

Nutritional treatment for phenylketonuria

The nutritional treatment of phenylketonuria consists in removing from the diet foods rich in phenylalanine, which is an amino acid found in foods that are sources of protein. Foods banned for phenylketonurics are:

Animal foods: meat, milk and meat products, eggs, fish, seafood, and meat products such as sausage, sausage, bacon, ham. Foods of vegetable origin: wheat, soy and derivatives, chickpeas, beans, peas, lentils, chestnuts, peanuts, walnuts, almonds, hazelnuts, pistachios, pine nuts; Sweeteners with aspartame; Products that contain prohibited foods, such as cakes, cookies and bread.

Fruits and vegetables can be consumed by phenylketonurics, as well as sugars and fats. It is also possible to find on the market several special products made for this audience, such as rice, macaroni and crackers, and there are several recipes that can be used to produce foods low in phenylalanine. See more tips on Phenylketonuria Diet and Phenylalanine Rich Foods.

Prohibited foods of plant origin

Prohibited foods of animal origin

Treatment with amino acid supplements

Amino acid supplements are used to treat phenylketonuria because the low-protein diet these patients eat is insufficient to provide the necessary nutrients for proper growth and development.

The supplementation to be used varies according to the patient's age and weight, and must be maintained throughout life, as protein deficiency can cause problems such as growth retardation, weight loss, hair loss and decreased tolerance to phenylalanine.

Blood tests to monitor the disease

People with phenylketonuria need to have blood tests frequently to monitor blood phenylalanine levels and adjust their diet accordingly.

Until the baby is 1 year old, this test should be done weekly. Children between 2 and 6 years old repeat the exam every 15 days and, from 7 years old, the exam is done once a month. The content of phenylalanine allowed in the diet varies according to the blood values of phenylalanine that the patient has, and should always be guided by a pediatrician or nutritionist.

Infant milk without phenylalanine

Amino acid supplement without phenylalanine

Care to be taken at each stage of life

The treatment of phenylketonuria varies according to age and the needs of the organism at each stage of life:

Newborns: breastfeeding is limited, as breastmilk contains phenylalanine, and to supplement the diet, infant formulas without phenylalanine should be used according to medical advice; Beginning of solid nutrition and childhood: preference should be given to foods with a low phenylalanine content, such as fruits, vegetables, fats and special foods without phenylalanine. In this phase, special milk should also be kept, and the food must be accompanied by a pediatrician or nutritionist so that it is possible to supply the amount of nutrients necessary for healthy child development; Adolescence: from adolescence on, acceptable levels of phenylalanine in the blood become slightly higher, but care with food must be maintained to maintain adequate growth; Adults: the body can tolerate a higher level of phenylalanine in the blood, but the strict diet must be maintained to avoid problems such as seizures, nausea and vomiting. Pregnancy: pregnant women need to monitor the phenylalanine levels in the blood closely during pregnancy, as their excess brings risks to the baby such as cardiac malformation, mental retardation and microcephaly.

It is important that the treatment starts as soon as the disease is diagnosed, usually in the first days of life through the heel prick test, because if the nutritional treatment is completed, the baby can develop in a healthy way.