Effect of Phenylketonuria on pregnancy

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An uncommon genetically medical condition characterized with the high concentration of amino acid in the body is known as Phenylketonuria (PKU).this condition leads to the inability of the body to breakdown phenylalanine.

 

Symptoms

Retarded growth and development of the baby
Hyperactivity
Seizures
Trembling and shaking
High fever
Skin diseases such as eczema
Musty breath or urine odor

 

 

Possible Complications
If Phenylketonuria is not diagnosed early or is poorly or not treated, it could result in any of the following complications:

Brain damage that is irreversible
Intellectual disabilities within the first few months of life
Behavioral challenges or disorder
Seizures in grown children

 

Causes

The main cause of the disease condition the defect in the phenylketonuria which is responsible for the production of phenylalanine hydroxylase; the enzyme that breaks down phenylalanine. Consuming too much of eggs and meat and other foods with high protein contents by the pregnant woman may exposed the fetus to phenylketonuria condition after birth.

 

 

Diagnosis
Screening of blood sample of newborns is a vital method of diagnosing the disease condition.
There is also need to check for the presence PAH gene mutation that causes PKU within six weeks after birth.
Enzyme assay is a blood test to determine if the patient has defective gene that causes PKU or not.

Blood sample will also be taken to screen for the presence of enzyme needed to break down phenylalanine.

 

 

Treatment
Reducing intake of foods such as eggs, meat, milk that contain phenylalanine

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Use of special diet to feed babies with PKU because they cannot be breastfed

Intake of appropriate medication to lower phenylalanine levels

 

 

Effect of Phenylketonuria on pregnancy

Phenylketonuria if not properly treated and managed has significant negative effects on pregnancy and the baby after delivery. They include miscarriage, heart defects, low birth weight, stunted growth, abnormal small head and mental disabilities.



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