Phenylketonuria
Alternate Names : PKU, Phenylalanine Hydroxylase Deficiency
What are the treatments for the disease?
Treatment consists of limiting phenylalanine in the diet. Some healthcare
providers are willing to relax the diet after several years of life. Others
suggest limiting phenylalanine throughout life. The diet is difficult to follow
because phenylalanine is present in many foods. Foods that replace
phenylalanine with another substance often do not taste very good.
What are the side effects of the treatments?
There are no side effects to limiting phenylalanine in the diet. A person may
find it challenging to avoid such foods, however.
What happens after treatment for the disease?
Pregnant women with
phenylketonuria need to avoid phenylalanine. Women with PKU who do not limit
phenylalanine intake during
pregnancy are at high risk of having a baby with defects, including the following:
congenital heart disease
low birth weight
mental retardation
small head size
How is the disease monitored?
Regular blood and urine tests will be done to monitor PKU. Any new or worsening symptoms
should be reported to the healthcare provider.
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