University Hospital-

Maternity Counseling Center

FACI NG PKU
Octavio Gil
University Hospital-
Maternity Counseling Center
I
N
T
R
O
D
U
C
T
I
O
N

About this PKU
PKU is a genetic disease that affect hundreds of newborns each year. If you are a parent that is expecting and hasnt been
tested for the gene that is responsible for the PKU your child may be at risk. PKU is a life threatening condition however
because of modern blood test and the genome project we are able to detect the condition from an early age. With that being said
it is still important that expecting parents know the risk and procedures when dealing with PKU. This brochure is a
comprehensive guide explaining the illness, the risk factors involved, the process for diagnosis and the procedures one should
take if they find their child with or at risk of the illness.
Phenylketonuria (PKU) is a hereditary disease where the patient in
unable to digest. Those inflicted with PKU have defective
PAH(Phenylalamine Hydroxlase) enzymes which is necessary for
metabolizing phenylalanine in to one of the essential amino acids,
tyrosine. In a person without PKU phenylalanine is a helpful protein but
in PKU patients it is detrimental much like glucose(sugar) is to a diabetic.
Because this protein is unable to break down it stays unprocessed in the
body and not only results in a lack of tyrosine which is crucial to produce
dopamine, norepinephrine, and epinephrine (neurotransmitters in vital
in brain function), but a phenylalanine buildup can be toxic and cause
liver damage. Untreated PKU will often lead to symptoms such as mental
retardation, behavioral or social problems, seizures, and prevention of
mental or physical growth.


What is PKU?
Figure 1
Figure 1: A diagram of what happens when
some who has PKU eats phenylalanine
compared to a normal person
University Hospital-
Maternity Counseling Center
PKU Testing Page 3
Page 4
Page 5
Page 6
Treatment
Graphs & Charts
Bibliography
University Hospital-
Maternity Counseling Center
P
K
U

T
E
S
T
I
N
G

Guthrie Test
An infant gets PKU when it receives a recessive gene from each parent. That is to say that if both parents are
carriers the infant has a 25% chance to inherit PKU (See Figure 1). Because of this it is important that parents
check to see if they might be carriers of PKU. In a majority of hospitals today it is procedure to check the
infant for PKU at birth. This is normally done by a simple blood/urine test know as the Guthrie test. The
sample is then mixed with an inhibitor and a bacteria strain (Bacillus subtilis). If the colony of bacteria grows
with the inhibitor(due to PHE levels) than in is apparent the baby does in fact have PKU. In the figure below a
Guthrie test is shown.




Figure 3: A baby about to go through a Guthrie
test.
Figure 2 Figure 3
Figure 2: The trait is autosomal recessive therefore although the parents
may not exhibit symptoms it is still possible the there child will get the
disease. The child also has a 50% chance of becoming a carrier of PKU.
University Hospital-
Maternity Counseling Center
T
R
E
A
T
M
E
N
T


If the baby tests positive for PKU that are a number of
things to According to the NIH, (National Institute of
Health) it is important that they avoid high protein
foods such as: Milk and cheese, eggs, nuts, soybeans,
beans, chicken, beef, pork, fish peas & beer. Patients
are also suppose to take formula in order to get their
essential nutrients that they lack. Patients are take the
drug sapropterin dihydrochloride which reduces and
breaks down phenylalanine. Patients with PKU are
also advised to get regular blood tests to check their
PHE levels. If a person with PKU is planning on having
children they should know what their partners
genotype is so that the know the risks. If their partner
is a carrier there is a 50% chance of having a child with
PKU.


Figure 4
Figure 4: A PKU recommended diet low on
phenylalanine
University Hospital-
Maternity Counseling Center
G
R
A
P
H
S

&

C
H
A
R
T
S

Fiscal Year 2005 Annual Report
Figure 6
Figure 7
Figure 5: This is a pedigree that shows the family history of Baby Doe who has PKU. The
black shaded ones are people who have PKU. White are people that dont show
symptoms, who may of my not be carriers. Male are squares females are circles. Those
with a line going through them are deceased . Although the figure doesnt show both
Baby Does parents are carriers. What the figure does show however is that both
families have a history of PKU
Figure 7: This graph shows the results of a
Guthrie test. Because of the large size of the
bacteria colony and high phenylalanine
concentration it can be implied that the patient
has PKU.
Genotypes of family members

John Does brother: R-
John Does sister: R-
John Does brother-in-law: R-
John Does mother: R-
John Does father: R-
John Does paternal uncle: Rr
John Does paternal uncles son: rr
John Does paternal aunt-in-law: Rr
John Does paternal grandmother: R-
John Does paternal grandfather: rr
John Does mothers siblings: rr
John Does maternal uncle: R-
John Does maternal grandparents: Rr
Jane Does father: Rr
Jane Does mother: rr
Jane Does maternal uncle: rr
Jane Does maternal aunt: Rr
Jane Doe: Rr
John Doe: Rr
Baby Doe: rr
Figure 5
Figure 7: This chart shows the number
of PKU births among ethnic groups
Population
PAH Deficiency in
Live Births
Carrier Rate Citation
Turks 1:2,600 1/26 Ozalp et al [1986]
Irish 1:4,500 1/33 DiLella et al [1986]
Northern
European, East
Asian
1:10,000 1/50
Scriver & Kaufman
[2001]
Finnish, Ashkenazi
Jewish
1:200,000 1/225
Scriver & Kaufman
[2001]
University Hospital-
Maternity Counseling Center
B
I
B
L
I
O
G
R
A
P
H
Y



Sources
http://www.ncbi.nlm.nih.gov/books/NBK1504/
http://themedicalbiochemistrypage.org/aminoacidderivatives.php
http://depts.washington.edu/pku/about/monitor.html
http://www.nichd.nih.gov/health/topics/pku/conditioninfo/Pages/treatments.aspx
https://www.mun.ca/biology/scarr/PKU_diagnosis_&_treatment.html
https://www.acmg.net/docs/Phenylalanine_Hydrosylase_Deficiency_Practice_Guideline_AOP_Jan_2013.pdf
http://www.mayoclinic.org/diseases-conditions/phenylketonuria/basics/symptoms/con-20026275
http://depts.washington.edu/pku/about/diet.html