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Published by Nader Smadi

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Published by: Nader Smadi on Feb 07, 2009
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Phenylketonuria (fen-ul-ke-to-NU-re-uh) is a birth defect in which a mutation occurs
in a gene containing instructions for making the enzyme needed to break down the
amino acid phenylalanine.

Amino acids are the building blocks for protein, and too much phenylalanine can
cause a variety of health problems. People with phenylketonuria \u2014 babies, children
and adults \u2014 need to follow a diet that limits phenylalanine, which is found mostly in
high-protein foods.

Babies in the United States and many other countries are screened for phenylketonuria soon after birth. Although phenylketonuria is rare, recognizing phenylketonuria right away can help prevent serious health problems.


Newborns with phenylketonuria don't have any symptoms. Without treatment,
though, babies usually develop signs of PKU within a few months. Phenylketonuria
symptoms can be mild or severe and may include:

Mental retardation
Behavioral or social problems
Seizures, tremors or jerking movements in the arms and legs
Stunted growth
Skin rashes (eczema)
Small head size (microcephaly)
A musty odor in the child's breath, skin or urine, caused by too much
phenylalanine in the body
Fair skin and blue eyes, because phenylalanine cannot transform into melanin
\u2014 the pigment responsible for hair and skin tone

The most severe form of the disorder is known as classic PKU. Children with
untreated classic PKU usually develop obvious, permanent mental retardation and
behavioral problems by their first birthdays. However, even in people with exactly the
same genetic defect, the severity of the disease may be different.

Less severe forms of PKU \u2014 sometimes called mild or moderate PKU \u2014 have a
smaller risk of significant brain damage, but most children with these forms of the
disorder still require a special diet to prevent mental retardation and other
Pregnancy and PKU

A woman who has PKU and becomes pregnant is at risk of another form of the
condition called maternal PKU. Many people with PKU used to stop following a low-
phenylalanine diet during their teen years, as was directed by doctors at the time. But,
doctors now know that if a woman doesn't follow the diet during pregnancy, blood
phenylalanine levels can become very high and harm the developing fetus. Because of
this, and other reasons, doctors recommend that anyone with PKU follow the low-
phenylalanine diet for life.

Although babies born to mothers with high phenylalanine levels may have
complications at birth, most don't actually inherit PKU and won't need to follow a
PKU diet after birth. However, these babies are at risk of being born with mental
retardation or an abnormally small head (microcephaly). They may also have heart
defects, low birth weights and behavioral problems.

Autosomal recessive inheritance pattern

A mutation in a single gene causes PKU. This gene contains the instructions for
making an enzyme needed to process the amino acid called phenylalanine. Amino
acids are the building blocks for protein. In a person with PKU, this gene is defective,
causing a complete or near-complete deficiency of the enzyme. Without the enzyme
necessary to process phenylalanine, a dangerous buildup of this amino acid can

develop when a person with PKU eats foods that are high in protein, such as milk,
cheese, nuts or meats. This can eventually lead to serious health problems.

For a child to inherit PKU, both the mother and father must have and pass on the
defective gene. This pattern of inheritance is called autosomal recessive. A parent can
have the defective gene, but not have the disease. This is called being a "carrier."
Most often, PKU is passed down the family tree by parents who are carriers of the
disorder but don't know it.

Risk factors

A child's genetic makeup holds the possibility of inheriting PKU. Both parents must
pass along a copy of the mutated PKU gene for their child to develop this condition. If
only one parent has the PKU gene, there's no risk of passing PKU to a child. The gene
defect occurs mainly in white people of Northern European ancestry. It's much less
common in black people.

Children of mothers who have PKU but who didn't follow the PKU diet during
pregnancy also may be affected. Although these children don't often have PKU, they
do have consequences of the high level of phenylalanine in the mother's blood.

When to seek medical advice
Seek medical advice in these situations:
Newborns. If routine newborn screening tests show that your baby may have

PKU, your child's doctor will want to start dietary treatment right away to
prevent long-term problems. Newborns with PKU are started on a special
formula. Your doctor may refer you to a specialist in genetics and a dietitian
or nutritionist who can help you learn about the PKU diet.

Adults. Older adults with PKU who stopped the PKU diet in their teens may

also benefit from a trip to the doctor. Although adolescents with PKU were
allowed to go "off-diet" in the past, doctors now recommend that anyone with
PKU continue the special diet 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.

Women. It's especially important 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.

Tests and diagnosis

Newborn screening identifies almost all cases of PKU. All 50 states in the United
States require newborns to be tested for PKU. Canada and many other countries also
routinely screen infants for PKU.

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