Classic PKU – this is the severe form of the PKU disease. Here, the enzyme which is responsible for converting phenylalanine will be absent, and this would result in excessive phenylalanine buildup in the body of the sufferer. This may eventually result in brain damage and other fatal health issues.

Less Severe Forms of Phenylketonuria – In some cases, only a proportion of the phenylalanine enzyme will be affected, causing buildup to be very less to moderate. Hence, the risk of significant brain damage would be really low in this case.

The Relationship between Pregnancy and Phenylketonuria

If a woman who is already suffering from PKU conceives, she will be at higher risk of developing a health condition called maternal PKU. Hence, if the expecting mother does not follow an appropriate diet that limits protein intake, it may result in grave consequences such as a miscarriage or health problems to the fetus. This is really crucial even if the mother is suffering from a severe form of PKU. Usually, babies born out of mothers suffering from Phenylketonuria do not inherit the health condition from the latter. However, the presence of excessive phenylalanine enzyme in the body of the mother during the pregnancy period may result in some birth complications that include the following.

  • Facial abnormalities
  • Low birth rate
  • Delayed development
  • Heart problems
  • Microcephaly
  • Behavioral problems
  • Intellectual disability

When to Consult a Doctor

Detecting and fixing the disease at an early stage can allow sufferers to lead a normal life. As mentioned earlier, newborns are usually subjected to certain tests in order to diagnose the health condition soon after their birth. When it comes to women who are of childbearing age, it is recommended to seek medical assistance and maintain a decent diet plan before getting pregnant. Furthermore, adults who stopped the PKU diet in their teenage years are likely to suffer from mental and behavioral issues, heart problems, central nervous system damage, etc. Such people can tackle the situation to a great extent by designing a perfect diet plan with the help of a doctor.

Diagnosis and Treatment

In the case of newborns, their blood sample is collected within 24 hours of birth and tested to check for this and other health issues. The doctors may carry out urine and genetic tests as well in order to confirm the same. When it comes to treatment, the main option is to follow a strict diet chart that allows the suffering person to limit protein-rich food, depending on the presence of phenylalanine enzyme in their body. In addition, sufferers are advised to do frequent blood tests and some other tests to track the amount of phenylalanine in their body, as well as to monitor their mental and behavioral development.

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    About the Author

    Dr. Ghassan M. Al-Jazayrly, MD

    A graduate of University of Aleppo Faculty of Medicine, Dr. Al-Jazayrly or, as he is colloquially known: Dr. AJ, is an oncologist and hematologist of a Complete Care Community Health Center (CCCHC) with more than 36 years of experience. In recent years, he’s been involved with a non profit organization known as Every Woman Counts (EWC) which provides free breast and cervical cancer screening and diagnostic services to California’s underserved populations in order to eliminate health disparities for low-income individuals.

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