What You Need To Know About Maternal Phenylketonuria
There are diseases and conditions that seem unusual and unlikely, but they can affect both mother and baby. One of these is maternal phenylketonuria.
In this article we will tell you everything there is to know about this rare disease.
Phenylalanine is an amino acid and as such has the function of assisting the formation of proteins. When not absorbed by the body, it accumulates in the blood and causes health problems.
If maternal phenylketonuria, also called PKU, is controlled with the right treatments and a specific diet, it does not create problems. But without control this can damage the development of the fetus.
Origin of maternal phenylketonuria
Phenylketonuria is hereditary. It is transmitted exclusively through genes, from parents to children. Its form of transmission increases the chances of the unborn child having problems. However, to transmit PKU to the baby, both parents must be affected or healthy carriers.
In the event that only one parent has PKU, the baby to be born will be a healthy carrier without having the disease. If, on the other hand, both parents have this disease, there is a 25% chance that the unborn child will also suffer from it. In the worst case, PKU syndrome can complicate pregnancy and risk miscarriage.
Problems during pregnancy
With proper checks, this condition does not affect the gestation and development of the fetus. The real complications come when parents are unaware that they have this disease.
Some of those who have the disease were born at a time when there was no newborn screening for rare diseases.
With this diagnosis it is necessary to follow a very strict diet to avoid compromising the baby. In the worst case, PKU syndrome can complicate pregnancy and risk causing a miscarriage.
For its part, however, the child may suffer from microcephaly, mental retardation, facial alteration and be born under weight.
How is embryofetopathy transmitted by a PKU mother prevented?
If you have this disease or are a healthy carrier, it is more important to take care of it than to worry about it. The effects transmitted may be minimal or nil if adequate levels of phenylalanine in the blood are achieved in the three months prior to conception.
These levels must be maintained throughout pregnancy. In these situations it is very important to strictly follow the diet that will be given to you by the doctor and to go to all the required checks. Adequate phenylalanine levels are between 120 and 360 µmol / L (2-6 mg / dl).
Most of the analyzes must make known the state of health and the possible genetic conditions of which one is a carrier. For this reason it is equally important that the father carries out the necessary checks.
How is the diet to control maternal phenylketonuria?
It is important to start a diet that increases the proteins, minerals and vitamins present in the body of the future mother. The food products or medicines to be taken depend on the diagnosis made by the doctor and on the state of the patient herself.
Particular drugs will probably be prescribed that do not contain phenylalanine, which can allow the fetus to receive everything it needs for its growth in the mother’s belly.
During pregnancy it is essential to keep weight gain under control and the goal must be to have the right level of protein. Increased protein intake may require supplementation of minerals if they are lacking in the body.
Medical checks
For the rest, it will be sufficient to go to the various established checks. For women who will have a baby for the first time, it is recommended to have adequate tests to check if you have this genetic disease.
Controlling phenylalanine and a specific diet are extremely important. Get monthly checks and check for amounts of protein in your blood, weight gain, and fetal ultrasound scans. There is no need to be scared, just be careful.
