CAUSES, SIGNS,

SYMPTOMS, AND
DIAGNOSIS

Phenylketonuria

Phenylketonuria, or PKU, is a genetic

disorder. It is caused by a mutated gene
that is passed down to child from both
parents. The gene that is mutated
affects an enzyme that is in charge of
breaking down Phenylalanine, or Phe,
an amino acid (protein). When a person
has PKU, they cannot break down Phe.
Phe then builds up in the body, which
can build up to toxic levels. This can
damage the central nervous system and
cause brain damage.

PKU

Symptoms of PKU include delayed

mental and social skills, or mental
retardation. Other symptoms include
small head size, hyperactivity, jerking
movements of arms/legs, seizures, skin
rashes, and tremors.
Diagnosis is determined by a simple
blood test. Serum Phenylalanine is
tested. Every new child born in the
United States is tested for PKU before
they leave the hospital. Follow up urine
and blood tests would be done if a
positive result occurs.

Nutrition 580
Medical Nutrition Therapy
Fall 2012
By Michelle Ripley

PHARMACEUTICAL
.
TREATMENTS

NUTRITIONAL
IMPLICATIONS

Sapropterin (Kuvan): A drug that

increases tolerance to Phenylalanine. A
low-Phe diet still must be consumed
when taking this medication.

A person with PKU needs to eat a very

low diet of Phe, Most protein sources
have Phe, so a person on this diet might
be eating very little protein. This can
lead amino acid deficiencies, such as
tyrosine, since it is a byproduct of Phe
metabolism.

Neutral Amino Acid Therapy Powder:

Supplements may block some absorption
of Phenylalanine when consumed, so the
diet can be more liberal. *This is a new
therapy, and more studies need to be
done. Talk to a healthcare provider for
more information.

Other nutrient deficiencies are likely,

such as calcium, iron, vitamin B12,
selenium, zinc, and vitamin D.

This diet should be followed for life,

since adults who continue to follow the
diet show better mental and physical
health. But this diet is especially
important during childhood
development. It's also important for
women to follow diet before trying to
have a child..
*A low-phenylalanine diet should be
monitored by a Registered Dietitian or
Medical Doctor.

NUTRITIONAL
TREATMENTS
The only treatment is a low-Phe diet.
Phenylalanine is found in most
proteins, such as meat, fish, dairy, and
legumes. It is also found in some
artificial sweeteners. Those should be
avoided. A low-Phe diet includes low
protein breads, pastas, cereals. It is
also rich in fruits and vegetables.
Supplements are used to avoid
nutrient deficiencies, such as..

Fish oil (For missing long chained

fatty acids)
Iron (For missing high iron
proteins)

Carnitine.

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