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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 — babies, children
and adults — 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
 Rocking
 Hyperactivity
 Stunted growth
 Skin rashes (eczema)
 Small head size (microcephaly)
 Vomiting
 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
— 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 — sometimes called mild or moderate PKU — 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.
If you have PKU or a family history of PKU, your doctor may recommend screening
tests before pregnancy or birth. It's possible to identify PKU carriers through a blood

Testing your baby after birth

A PKU test is conducted a day or two after your baby's birth. In the test, a nurse or lab
technician collects a few drops of blood from your baby's heel or the crook of your
baby's arm using a needle or lancet. A laboratory tests the blood sample for certain
metabolic disorders, including PKU. Tests for PKU are highly accurate when done
between 24 hours and seven days after birth and are typically done before a new baby
leaves the hospital. The test is not done before the baby is 24 hours old or before the
baby has ingested some protein in the diet. 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 shows a high level of phenylalanine, he or she will need
to be fed a special formula. Your doctor can help you find the right type of formula to
feed your baby.

Your baby may also have additional tests to confirm the diagnosis, including more
blood tests and urine tests. You and your baby may also undergo genetic testing to
identify gene mutations.

Screening during pregnancy

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. Another option is to insert a catheter up through the cervix into the
chorionic villi, which forms the lining of the placenta. Through the needle, your
doctor removes a small sample of cells for genetic testing. Your doctor and a genetics
counselor can help you decide if these tests are right for you and what to do with the

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.

Newborn screening and treatment for affected babies helps prevent these

Treatments and drugs

The main phenylketonuria treatment is a strict diet with very limited intake of
phenylalanine, which is mostly found in protein-rich foods. Doctors used to believe it
was OK for a person with PKU to stop the diet in adolescence, but today, doctors
recommend sticking to the diet for life.
A safe amount of phenylalanine differs for each person. Your doctor will determine a
safe amount through regular review of diet records, growth charts and blood levels of
phenylalanine. Frequent blood tests will monitor PKU levels as they change over
time, especially during childhood growth spurts and pregnancy. In general, the idea is
to consume only the amount of phenylalanine that's necessary for normal growth and
body processes, but no more.

Which foods to avoid

Because the amount of phenylalanine adults can eat is so low, it's crucial they avoid
all high-protein foods, such as milk, ice cream, eggs, nuts, beans, chicken, steak and

Children and adults should also avoid foods, including many diet sodas, and
medications made with aspartame (NutraSweet, Equal). Aspartame, found in many
artificial sweeteners, releases phenylalanine when digested. Because the amount of
phenylalanine allowed in the PKU diet is so small, adults and children also have to
limit pasta, rice, bread, cookies, and even some fruits and vegetables.

For instance, one ear of corn on the cob contains more than 90 milligrams of
phenylalanine — which can be a substantial portion or all of a person's allotment for
the day. Too much of a good thing can be harmful. Even if you are eating approved
foods, eating too many at one time can be dangerous. Consider the total amount of
phenylalanine in all the foods you eat when planning your diet.

Focus on formula
You might wonder how someone, particularly a baby, can get all of the necessary
nutrition with these dietary limitations. The answer is a formula — a special
nutritional drink or supplement for people with PKU. The phenylalanine-free formula
provides protein and other essential nutrients in a form that is safe for people with

Because regular infant formula and breast milk contain phenylalanine, babies with
PKU need to have their diets substituted with a phenylalanine-free infant formula. A
dietitian will carefully calculate a sparing amount of breast milk or regular formula to
be mixed with the phenylalanine-free formula. Parents introduce solid foods with low
levels of phenylalanine to children with PKU on the same schedule used for other
infants. These foods replace the phenylalanine a baby has been receiving from breast
milk or formula and need to be precisely figured into the daily phenylalanine intake.

Older children and adults continue to drink several glasses of formula each day, as
directed by a doctor or dietitian. The formula for older kids and adults is not the same
as the one used for infants, but it works on the same principle. It acts as a nutritional
substitute and is continued for life.

The need for a nutritional supplement and the limited food choices can make the PKU
diet challenging. But, it is the only way to prevent the serious health problems people
with PKU can develop. Families need to commit to this lifestyle change
wholeheartedly, realizing that it may be difficult but not impossible.
Applying the PKU diet
If you or your child is "on-diet," you'll need to keep records of the amount of
phenylalanine eaten every day to be sure you're sticking to the specific, individualized
dietary guidelines recommended by your dietitian. To do so, use a food diary or
computer program that lists the amount of phenylalanine in baby foods, solid foods,
PKU formulas, and common baking and cooking ingredients. To be as accurate as
possible, measure portions, using standard measuring cups and spoons and a kitchen
scale that reads in grams.

Investing in some of the many low-protein products available through specialty food
retailers may add variety to your diet. You'll find low-protein rice, pasta, pizza crusts,
tortillas, bagels, breads, cookie dough and baking mixes, as well as egg substitutes
and imitation cheeses. These products provide some dietary variety, and they allow
people with PKU to eat lunches and dinners that more closely resemble what
everyone else is eating. Like the PKU formulas, these products can be expensive, but
you might consider splurging on a few favorites with the money you save on dairy
and meat products.

Food preparation ideas

Whether you buy special low-protein products or not, you can be creative with foods
you can find at your local grocery store. Here are some ideas for serving up three
square meals with low amounts of phenylalanine:

 Breakfast. In the morning, dish up lower phenylalanine cereals, such as corn

flakes or puffed rice, in nondairy creamer diluted with water. Or whip up a
smoothie by blending fresh or frozen fruit with ice cubes, fruit juice, and
almond or vanilla flavoring.
 Lunch. Pack a lunch bag with small portions of rice cakes, grapes, applesauce,
lemonade and jelly beans. Or enjoy a low-protein pumpkin or vegetable soup.
 Dinner. Veggie stir-fry and a salad make a great evening meal. So do
vegetable shish kebabs, soaked in a tangy vinaigrette or Asian marinade. You
can also try eggplant curry, baked potatoes topped with broccoli or
mushrooms, and peppers stuffed with sweet potatoes or carrots.

You can transform the same basic lower phenylalanine vegetables into a whole menu
of different dishes, using a little creativity — and a lot of seasonings. Herbs and
flavorings such as basil, cilantro, lemon juice, soy sauce, sesame oil, maple syrup and
honey are low in phenylalanine, but they pack a flavorful punch. Just remember to
measure and count every ingredient and adjust ideas to your individualized diet. Talk
to your doctor or dietitian if you have any questions. If you have any other health
conditions, you may need to consider those when you plan your diet too.

PKU medication
In December 2007, the Food and Drug Administration (FDA) approved the drug
sapropterin dihydrochloride (Kuvan) for treatment of some people with PKU. The
drug is for use in combination with a PKU diet. In approving the drug, the FDA
directed that studies continue regarding the drug's efficacy.

Women with PKU can prevent birth defects by sticking to — or returning to — a low-
phenylalanine diet before becoming pregnant. Even women with mild PKU may place
their unborn children at risk by not following the special PKU diet. If you're a woman
with a history of PKU, talk to your doctor before you start trying to conceive.

If you have a history of PKU, a close relative with PKU or a child with PKU, you
may also benefit from preconception genetic counseling. A doctor who specializes in
medical genetics can help you better understand how PKU is passed through your
family tree. He or she can also help you determine your risk of having a child with
PKU and assist with family planning.

Lifestyle and home remedies

Living with PKU can be difficult. The combination of a limited diet, expensive
groceries, regular blood tests, detailed food records and frequent visits to the doctor
can make for trying and frustrating times. The following strategies may help:

 Be informed. Knowing the facts about PKU can help you take better charge
of the situation. Discuss any questions with your pediatrician, family doctor or
a doctor who specializes in medical genetics. And read books and cookbooks
specifically written for people with PKU, such as "Low Protein Cookery for
PKU," by Virginia Schuett.
 Learn from other families. Ask your doctor how you can link up with other
parents who have successfully managed their child's PKU. Talking with others
who have mastered similar challenges can be very helpful.
 Get help with menu planning. A registered dietitian with experience in PKU
can help you devise delicious low-phenylalanine dinners. He or she may also
have great ideas for holiday meals and birthdays.
 Try to eat out. A meal at the local cafe or neighborhood pizzeria gives you a
break from the kitchen and can be fun for the whole family. Most places offer
something that fits into the PKU diet, even if it's just french fries and salad.
But you may want to call ahead and ask about the menu or bring food from
home. Some restaurants will even agree to heat up a low-protein product, if
you make arrangements in advance.
 Find sources of financial aid. Ask your doctor or dietitian if there are
programs or insurance companies in your area that help cover the high costs of
formula and low-protein foods. Also, see if your local school lunch program
will accommodate special dietary needs.

Coping and support

If you have a child with PKU, it can be difficult to explain why he or she can't eat
"normal" foods. Worse yet, mealtimes and snack times can be a battle. Here are some
tips for avoiding food fights and creating a better buffet:

 Don't focus on food. Encourage children with PKU to focus on sports, music
and favorite hobbies, not just what they can and can't eat. Also consider
creating holiday traditions that center on special projects and activities, not
just food. At your house, Thanksgiving can revolve around making a crafty
cornucopia, not just eating turkey.
 Let your child manage his or her diet as early as possible. Toddlers can
make choices about which cereal, fruit or vegetable they'd like to eat and help
measure out portions. They can also help themselves to pre-measured snacks.
Older children can help with menu planning, pack their own lunches and keep
their own food records.
 Make your grocery list and your meals with the whole family in mind. A
cupboard full of restricted foods can be tempting and irritating to a child or
adult with PKU, so try to limit the number of forbidden foodstuffs. Also try to
avoid making separate meals that single out a child with PKU. Instead, make
one meal for the whole family, even if the PKU child can't eat everything.
Serve stir-fried vegetables with meat, cashews and rice on the side, or set up a
salad bar with low-protein and high-protein options. You can also serve the
whole family a delicious low-phenylalanine soup or curry.
 Be prepared for potlucks, picnics and car trips. Plan ahead, so there's
always a PKU-friendly food option. Pack dehydrated fruit snacks, raisins and
crackers for the car. Take fruit shish kebabs or vegetable skewers to a cookout,
and make a low-phenylalanine salad for the neighborhood potluck. Other
parents, friends and family members will likely be accommodating and
helpful, if you explain the dietary restrictions.
 Be sure your child's school is schooled in the PKU diet. Your child's
teachers and cafeteria staff can be a big help with the PKU diet, if you take the
time to explain its importance and how it works. By working with your child's
teachers, you can also plan ahead for special school events and parties, so your
child always has a treat to eat.
 Maintain a positive food attitude. When children know nothing but the
foods they are given, they are surprisingly accepting of the PKU diet —
especially when their parents are positive problem solvers.