PKU

Phenylketonuria
Molly Kendrick

PKU
It is a birth defect that causes an amino acid to
build up in the body called Phenylalanine.
This affects the Nervous System and Brain.
PKU is a lifelong condition that has to be
managed.

Symptoms
*Symptoms can range from mild to severe.
Rashes/Eczema
Tremors or jerky hand/leg movement
Lighter hair, skin, or eye color than the rest of
the family
Musty odor in skin, breath, and urine
Seizures
Hyperactivity

Symptoms Continued
Developmental
Learning disability
Failure to thrive
Short stature
Delayed development
Slow growth

Cognitive
Slowness in activity
Slowness in thought
Intellectual disability

Cause
The body can not break down Phenylalanine, the
buildup will cause damage to the brain and
nervous system.
This disorder is genetic, it can not be prevented.

Inherited
PKU is inherited in an autosomal recessive
pattern. Both parents must pass on a bad PAH
gene.
Carriers have only one PAH gene altered.
Each parent has two copies of the PAH gene.

Inherited
Autosomal recessive pattern means two copies
of an abnormal gene must be present in order
for the disease or trait to develop.

Treatment
Most common is the strict low protein diet. The
diet has to be continued for their whole life.
FDA recently approved a medication called
Kuvac(Sapropterin). If it works you have to take
the medication for life. This medication
increases the body's tolerance for Phenylalanine.
This does not work for everyone.

Treatment
If PKU is managed there will be no symptoms.
Untreated PKU can lead to brain damage,
mental retardation, behavioral issues, or
seizures.

Diagnoses
PKU can be diagnosed from a blood sample. All
newborns are screened for PKU. Screening will
be done after the newborn has been drinking
milk for 24 hours, to prevent false negative. The
screening of newborns has been done since the
1960s.

Diagnoses
An Enzyme assay can also be done to determine if
someone is a carrier.

Affected People
Can happen to boys and girls.
Can happen to all ethnic groups.
More common in families from Ireland and other
parts of Northern Europe.
Common in people from Turkey and Native
Americans.
Less common in people of African, Japanese, or
Ashkenazi Jewish backgrounds.

Affected People
1 in 10,000 caucasian newborns have PKU
1 in 50 caucasian people will be carriers for
PKU
Fewer than 20,000 cases per year in the United
States.

Pregnancy
For a woman with PKU pregnancy can be very
difficult, if she fails to follow a strict diet many
things could happen.

Miscarriages
Low birth weight
Small head
Behavioral problems
Heart defects (If baby is exposed to high levels of
Phenylalanine)

Work Cited
www.newbornscreening.info
www.nlm.nih.gov
www.marchofdimes.org
www.ghr.nlm.nih.gov
www.healthline.com
Mayo clinic