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Phenylketonuria - PKU

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From MayoClinic.com 

When to seek medical advice

If routine newborn screening tests indicate that your baby may have PKU, you'll need to see a doctor immediately, to prevent problems before they start. You may also be referred to a doctor who specializes in genetics and a dietitian or nutritionist who specializes in the PKU diet.

Older adults with PKU who stopped the PKU diet in adolescence may also benefit from a trip to the doctor. Although children with PKU were allowed to go "off-diet" in adolescence in the past, doctors now recommend that the PKU diet be continued for life. Returning to the diet can improve mental functioning and behavior and slow damage to the central nervous system in adults with high phenylalanine levels.

It's especially critical for women with a history of PKU to see a doctor and return to the PKU diet before becoming pregnant. Even mild cases of maternal PKU can pose a risk to unborn babies. Pregnant women with PKU who aren't on the special diet also have a higher risk of miscarriage.

Screening and diagnosis

A day or two after your baby's birth, a nurse or lab technician will collect a few drops of blood from your baby's heel or the crook of your baby's arm using a needle or lancet. This blood sample is sent to a laboratory to be tested for metabolic disorders, including PKU. Tests for PKU are highly accurate when performed between 24 hours and seven days after birth and are typically performed before a new baby leaves the hospital. If you don't deliver your baby in a hospital or are discharged soon after the birth, you may need to schedule a newborn screening with your pediatrician or family doctor.

If your baby's blood sample indicates high levels of phenylalanine, your doctor may recommend diet changes and order additional tests to confirm the diagnosis, including more blood tests and urine tests. You and your baby may also undergo genetic testing to identify mutations in the PAH gene.

If you have PKU or a family history of PKU, your doctor may also recommend screening tests before pregnancy or birth. It's possible to identify PKU carriers through a blood test. It's also possible to detect PKU in a developing fetus using chorionic villus sampling (CVS). During this procedure, a needle is inserted through a pregnant woman's lower abdomen or a catheter is passed up through her cervix into the chorionic villi, which forms the lining of the placenta. A small sample of cells is then removed to be tested for genetic disorders, including PKU. Your doctor and a genetics counselor can help you decide if these tests are right for you.


Untreated PKU leads to irreversible brain damage and marked mental retardation within the first few months of life. Older children with untreated PKU may also develop behavioral problems and seizures. Damage to the central nervous system may cause a child with PKU to become irritable, restless and destructive.



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