Definition
Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
Symptoms
Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.
Other symptoms may include:
- Delayed mental and social skills
- Head size significantly below normal
- Hyperactivity
- Jerking movements of the arms or legs
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Definition
Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
Symptoms
Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.
Other symptoms may include:
- Delayed mental and social skills
- Head size significantly below normal
- Hyperactivity
- Jerking movements of the arms or legs
- Mental retardation
- Seizures
- Skin rashes
- Tremors
- Unusual positioning of hands
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Causes
Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait.
Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein.
Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage.
Treatment
PKU is a treatable disease. Treatment involves a diet that is extremely low in phenylalanine, particularly when the child is growing. The diet must be strictly followed. This requires close supervision by a registered dietitian or doctor, and cooperation of the parent and child. Those who continue the diet into adulthood have better physical and mental health. Diet for life has become the standard recommended by most experts. This is especially important before conception and throughout pregnancy.
Phenylalanine occurs in significant amounts in milk, eggs, and other common foods. The artificial sweetener NutraSweet (aspartame) also contains phenylalanine. Any products containing aspartame should be avoided.
A special infant formula called Lofenalac is made for infants with PKU. It can be used throughout life as a protein source that is extremely low ...
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Possible Complications
Severe mental retardation occurs if the disorder is untreated. ADHD (attention-deficit hyperactivity disorder) appears to be the most common problem seen in those who do not stick to a very low-phenylalanine diet.
Outlook (Prognosis)
The outcome is expected to be very good if the diet is closely followed, starting shortly after the child's birth. If treatment is delayed or the condition remains untreated, brain damage will occur. School functioning may be mildly impaired.
If proteins containing phenylalanine are not avoided, PKU can lead to mental retardation by the end of the first year of life.
Prevention
An enzyme assay can determine if parents carry the gene for PKU. Chorionic villus sampling can be done on the pregnant women to screen the unborn baby for PKU.
It is very important that women with PKU closely follow a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy, since build-up of this substance will damage the developing baby even if the child has not inherited the defective gene.
Exams and Tests
PKU can be easily detected with a simple blood test. Most states require a PKU screening test for all newborns. The test is generally done with a heelstick shortly after birth.
If the initial screening test is positive, further blood and urine tests are required to confirm the diagnosis.
References
American Dietetic Association. Providing nutrition services for infants, children, and adults with developmental disabilities and special health care needs. J Am Diet Assoc . Jan 2004; 104(1): 97-107.
Beblo S. Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J Pediatr . May 2007; 150(5): 479-84.
Filiano JJ. Neurometabolic diseases in the newborn. Clin Perinatol . Jun 2006; 33(2): 411-79.
Gassio R. School performance in early and continuously treated phenylketonuria. Pediatr Neurol . Oct 2005; 33(4): 267-71.
Welch T. Dietary management of mothers with PKU during pregnancy. J Pediatr . Feb 2004; 144(2); 1A.
Welch TR. Pharmacologic approach to PKU? J Pediatr . Jun 2007; 150(6); A3.
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