PHENYLKETONURIA

(PKU)

Trisha Mae Suazo

Erica Joy Villaluna

What is phenylketonuria?
 Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased
metabolism of the amino acid phenylalanine. Children with PKU can’t process an amino acid
called phenylalanine. Phenylalanine is in many common foods. It helps the body make protein.
It's also important for brain growth. It's normally changed to tyrosine, which helps create all the
body's proteins. But with PKU, the amino acid can build up in the bloodstream and cause harm.

What is Phenylalanine?
Phenylalanine hydroxylase is an enzyme your body uses to convert phenylalanine into
tyrosine, which your body needs to create neurotransmitters such as epinephrine, norepinephrine,
and dopamine. PKU is caused by a defect in the gene that helps create phenylalanine
hydroxylase. When this enzyme is missing, your body can’t break down phenylalanine. This
causes a buildup of phenylalanine in your body

Types of PKU
 Classic PKU. The most severe form of the disorder is called classic PKU. The enzyme
needed to convert phenylalanine is missing or severely reduced, resulting in high levels of
phenylalanine and severe brain damage.
 Less severe forms of PKU. In mild or moderate forms, the enzyme retains some function, so
phenylalanine levels are not as high, resulting in a smaller risk of significant brain damage.

What causes PKU in a child?

PKU is caused by a defect in a gene known as the PAH gene. This defect changes the
way that phenylalanine is broken down by the body during digestion. PKU is passed on to
children when each parent has 1 mutated gene. This means that neither parent has any symptoms
of PKU, but both are carriers of the faulty gene. PKU is an autosomal recessive disease. This
means that a child needs to inherit 1 faulty gene from each parent to show signs of the disorder.

How it’s diagnosed?

 The screening test is performed when the baby is one to two days old and still in the
hospital.
 Additional tests may be performed to confirm the initial results. These tests search for the
presence of the PAH gene mutation that causes PKU. These tests are often done within six
weeks after birth.

Symptoms
Newborns with PKU initially don't have any symptoms. However, without treatment, babies
usually develop signs of PKU within a few months.
PKU signs and symptoms can be mild or severe and may include:
 A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body
 Neurological problems that may include seizures
 Skin rashes (eczema)
 Fair skin and blue eyes, because phenylalanine can't transform into melanin — the pigment
responsible for hair and skin tone
 Abnormally small head (microcephaly)
 Hyperactivity
 Intellectual disability
 Delayed development
 Behavioral, emotional and social problems
 Psychiatric disorders

What are possible complications of PKU in a child?

A baby born to a woman who has PKU that is not controlled with a special diet is at high risk for
serious problems. The developing baby in the uterus can be exposed to very high levels of
phenylalanine. These mothers are also at risk for pregnancy loss.
If PKU in a child is not diagnosed and treated, phenylalanine will build up in the bloodstream
until it reaches levels that can cause brain damage. It can also cause permanent damage to organs
and tissues around the body. PKU can lead to:
 Developmental delays
 Heart defects, especially in infants born to mothers with PKU and uncontrolled
phenylalanine in pregnancy
 Autism
 Intellectual disability
 Very small head size (microcephaly)
 Behavioral problems
 Seizures
 Eczema (a skin condition marked by an itchy red rash or blisters)
 Pale hair and skin compared with other family members
 Delayed physical growth
 Musty body odor

Treatment
PKU is treated with a special diet. Newborn babies who test positive for PKU are placed on
phenylalanine-free formula right away.
The main way to treat PKU is to eat a special diet that limits foods containing phenylalanine.
Infants with PKU may be fed breast milk. They usually also need to consume a special formula
known as Lofenalac.. A child with PKU can eat many foods low in protein, such as vegetables,
fruits, and some cereals. Your child may also need to take mineral and vitamin supplements to
make up for nutrients missing from the diet. When your baby is old enough to eat solid foods,
you need to avoid letting them eat foods high in protein.These foods include:
 eggs
 cheese
 nuts
 milk
 beans
 chicken
 beef
 pork
 fish
Medication
 Sapropterin (Kuvan)- to increase phenylalanine tolerance
 Palynziq- works well for many adult PKU patients.

Pregnancy and Phenylketonuria

Woman with PKU may be at risk of complications, including miscarriage, if they don’t follow a
PKU meal plan during their childbearing years. There’s also a chance that the unborn baby will
be exposed to high levels of phenylalanine. This can lead to various problems in the baby,
including:
 intellectual disabilities
 heart defects
 delayed growth
 low birth weight
 an abnormally small head
These signs aren’t immediately noticeable in a newborn, but a doctor will perform tests to check
for signs of any medical concerns your child may have.

Prevention
If you have PKU and are considering getting pregnant:
 Follow a low-phenylalanine diet. Women with PKU can prevent birth defects by sticking to
or returning to a low-phenylalanine diet before becoming pregnant. If you have PKU, talk to
your doctor before you start trying to conceive.
 Consider genetic counseling. If you have PKU, a close relative with PKU or a child with
PKU, you may also benefit from genetic counseling before becoming pregnant. A doctor who
specializes in medical genetics (geneticist) can help you better understand how PKU is
passed through your family tree. He or she can also help determine your risk of having a
child with PKU and assist with family planning.