Learn All About Maternal Phenylketonuria

There are diseases and conditions that, as strange and unlikely as they seem, can affect you or your baby. One of them is exactly maternal phenylketonuria.
Know all about maternal phenylketonuria

Phenylalanine is an amino acid and, as such, has the function of contributing to the process of protein formation in the body. When this amino acid cannot be processed, it accumulates in the blood and causes health problems.

If maternal phenylketonuria, also called PKU, is controlled with treatment and a strict diet, it will not cause any major problems. However, if there is no control, it can affect the development of the fetus.

Origin of maternal phenylketonuria

Phenylketonuria is an inherited condition. It is uniquely transmitted from parent to offspring through genes. When transmitted in this way, there is a high probability of health problems in the baby. However, for a child to have PKU, both parents must either have PKU or be carriers.

In the event that only one parent of the new baby has PKU, the future child will be a carrier, but will not suffer from the disease. Even if both parents have the disease, the baby will have a 25% chance of directly suffering the damage from it. In the worst case, PKU syndrome can complicate pregnancy and risk miscarriage.

maternal phenylketonuria

Problems in pregnancy

If the mother-to-be has a good follow-up, this condition should not affect the baby’s development during pregnancy. The real complication is that often the mother or father does not know that they are suffering from this condition.

Some people who have this disease were born at a time when the PKU Early Detection Plan did not exist.

Individuals with the diagnosis must follow a strict diet so as not to affect the child.

In turn, children could suffer from microcephaly, small degrees of mental retardation, facial changes and low birth weight.

How can we prevent phenylketonuria transmitted to the child by a PKU mother?

If you suffer from this disease or are a carrier, instead of worrying, you should take care of yourself. Transmitted effects may be minimal or nil if you are able to maintain adequate levels of phenylalanine in your blood for the 3 months prior to conception.

Furthermore, these levels must also be maintained throughout the entire pregnancy process. The important thing is to follow the recommendations and diets your doctor will prescribe to the letter. Suitable levels of phenylalanine are between 120 and 360 µmol/L (2-6 mg/dl).

Therefore, an important part of your medical care should be directed towards knowing the state of your body and the possible genetic conditions of which you may be a carrier. Also, reviewing this type of medical data on the father is also ideal.

maternal phenylketonuria

How is the diet to control maternal phenylketonuria?

The important thing is to start a diet that boosts the amount of protein, minerals and vitamins in the expectant mother’s body. Additional food products or medications will depend on the doctor’s diagnosis and the patient’s condition.

Most likely, mothers diagnosed with this condition will be prescribed a special phenylalanine-free formula. Thus, your little one will be able to acquire all the necessary ingredients for its growth inside the belly.

It is critical to gain adequate weight during pregnancy and your goal will be to try to retain protein. Protein intake will increase significantly and you may need to take a supplement in case you lack any minerals in your body.

medical follow-up

The rest will be subject to rigorous monitoring. For women who will have children for the first time and suffer from this disease, the ideal is to undergo the indicated tests.

Phenylalanine control and specialized dietary research will be essential. Therefore, you will need to keep a close watch during your pregnancy. Focus on your monthly exams. The doctor, in turn, will be in charge of monitoring your weight, protein intake and the corresponding fetal ultrasounds. So there’s no need to be scared, just be disciplined.

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