PKU

Phenylke tonuria

REGISTRY POWERED BY NORD

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 Meet PKU Warrior A L E X
Alex
My name is Alex Baker and I am a 22-year-old college student with PKU. I have an associate degree in music
performance and I currently study physics at Rutgers University, which I plan to see through to a PhD. I’m
also a server at a local restaurant and for 6 years I’ve been a lifeguard every summer. In my free time I’m
an avid musician playing guitar, piano, bass, drums, and vocals; I’m a linguaphile and love studying world
languages, and the outdoors is my favorite place.
If I could write a book about living with a rare disease, I’d title it Living with a Sense of Humor. I remember
when I was little going to birthday parties and I’d bring my own low-protein food and dessert to have while
everyone else was crowded around the pizza and the cake. Back then I used to get embarrassed when asked
questions about my condition. Those experiences taught me to think of PKU differently. Today my friends
are fascinated by my experience with PKU and frequently ask questions that stimulate a conversation. In
high school, when my friends and I would joke around and tease each other, one friend would laugh and say
to me, “Shut up Baker, or I’m gonna force-feed you a steak!” The idea that something simple like feeding
someone meat could be a threat is hilarious. I remember the first time he said that I was laughing so hard
my sides hurt. That made me realize how true the cliché “laughter is the best medicine” can be. When I’m
making light of this thing that I deal with 24 hours a day, it takes away all the power it has over me. I know
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people may find it offensive, but I don’t understand how they survive without humor.
The biggest struggle with treating PKU is travel. I recently took my first trip overseas to Iceland. A lot of
Icelandic cuisine is seafood, so I knew there had to be a lot of preparation. I went on the plane with a small
carry-on bag with a bottle of Restore, a small suitcase for the overhead bin, and I checked a massive bag
loaded with 10 days’ worth of my prescription of Cambrooke Restore and Bettermilk (30 of each). It was
a challenge for sure, but throughout my life I’ve never let PKU define and control me, so I will do it again.
Iceland was a great learning experience. Despite the difficulty of having to transport my prescription every-
where I go, I feel that universal healthcare in the United States would be the best solution short of a full cure.
Right now, people with conditions like PKU need healthcare to afford monthly prescriptions for medical
formulas and specialty low-protein foods. I fear once I’m off my parent’s healthcare at 26 I will have trouble
paying out of pocket for insurance. I’ll likely still be in school, so I may not start a career with health benefits
until about a year later. Being able to maintain one’s health is a basic human right and if I want to live carefree
with PKU, I have to consider living in other countries with socialized medicine unless we see serious reform in
America by the time I start my career.
© 2019 Trio Health Advisory Group, Inc.; NORD - National Organization for Rare Disorders, Inc.
What is PKU?
PHENYLKETONURIA
Overview
Phenylketonuria (PKU) is an inborn error of metabolism detectable during the first days of life via routine newborn screening.
PKU is characterized by the absence or deficiency of an enzyme called phenylalanine hydroxylase (PAH), responsible for
processing the amino acid phenylalanine. Amino acids are the chemical building blocks of proteins and are essential for
proper growth and development. With normal PAH activity, phenylalanine is converted to another amino acid, tyrosine.
When PAH is absent or deficient, however, phenylalanine accumulates and is toxic to the brain. Without treatment, most people
with PKU would develop severe intellectual disability. To prevent intellectual disability, treatment consists of a carefully
controlled phenylalanine-restricted diet beginning during the first days or weeks of life.
Signs and Symptoms
Infants with PKU typically appear normal at birth. With early screening and dietary treatment, affected individuals may
never show symptoms of PKU. Those newborns not diagnosed in the first days of life and therefore not treated properly,
may be weak and feed poorly. Other symptoms may include vomiting, irritability, and/or a red skin rash with small pimples.
Developmental delay may become obvious at several months of age. The average IQ of untreated children is usually less
than 50, and intellectual disability in PKU is a direct result of elevated levels of phenylalanine in the brain that causes the
destruction of the fatty covering (myelin) of individual nerve fibers. It can also cause depression by reducing brain levels of
dopamine and serotonin (neurotransmitters).
Untreated infants with PKU tend to have unusually light eye, skin, and hair color due to high phenylalanine levels interfering
with production of melanin, a substance that causes pigmentation. They may also have a musty or “mousy” body odor
caused by phenylacetic acid in the urine and sweat.
Neurological symptoms are present in some untreated patients with PKU, including seizures, abnormal muscle movements,
tight muscles, increased reflexes, involuntary movements, or tremor.
Untreated females with PKU who become pregnant are at high risk for having a miscarriage or problems with fetal growth
(intrauterine growth retardation). Children of women with untreated PKU may have an abnormally small head (microcephaly),
congenital heart disease, developmental abnormalities, and/or facial abnormalities. There is a strong relationship between
the severity of these symptoms and high levels of phenylalanine in the mother. As a result, all women with PKU who have
stopped treatment should resume treatment before conception and continue on it throughout the pregnancy, which should
be managed by a metabolic geneticist and dietician.
continued on page 33
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 Meet PKU Warrior D I O N E
Dione
My name is Dione Goodreau. I’m a 32-year-old female with PKU working as a Transportation Manager for
Pepsi Beverages Company; I have been in the field of logistics and supply chain since I graduated college in
2008. I’m a board member for the Michigan PKU Organization as well, and have been spending a lot of time
connecting with other adults with PKU who have strayed from diet back to treatment by serving as a mentor
and advocate.
I was born in Germany in 1986, and the fact that newborn screening was being practiced there at that time
is an incredible blessing. I wouldn’t be where I am today without my parents who did everything within their
power to make sure I grew up healthy. Growing up in my family I was the only one with PKU, and I didn’t
ever let that bother me, or the fact that I was “different.” I didn’t care and never let it stop me. I grew up to
be a very successful athlete and participated in the 2004 World Synchronized Skating Championships and
represented Team USA overseas in many competitions. I studied hard and got a degree in my field of supply
chain, and have been working in upper management for 10 years. I got to where I am because I was always
taught that working hard now will pay off later. I’ve been working hard in athletics, school, and with my health
my whole life. I don’t know anything different.
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The biggest struggle is formula. Newer options have been available in recent years which is incredible, but
none of them come with insurance coverage. And if/when they do get covered, the other added issue is
calorie content. With the high-calorie content of so many low protein foods and formulas, it’s difficult to
manage a healthy diet, calorically speaking, while still managing to keep my phe intake within a healthy range.
The balancing act every single day can become quite exhausting, but it is worth it. It’s definitely a challenge.
What would help?
Lower calorie options for all foods and formulas, and having all of these options covered with the passing
of the Medical Nutrition Equity Act. Obviously another thing that would help is to find a cure, completely
eliminating the need for medical foods and formulas all together.
© 2019 Trio Health Advisory Group, Inc.; NORD - National Organization for Rare Disorders, Inc.
What is P K U ?
continued from page 31
Causes
PKU is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits an abnormal
gene from each parent. If an individual receives one normal gene copy and one abnormal gene copy, they will be a carrier
for the condition, but will not have symptoms. The risk for two carrier parents to both pass the abnormal gene and, therefore
have an affected child, is 25% with each pregnancy. The risk is the same for males and females.
More than 1,000 different changes (mutations) in the PKU gene have been identified. Because the different mutations result
in varying degrees of PAH enzyme activity, and therefore varying degrees of phenylalanine elevation in blood, the diet of
each child must be adjusted to the individual’s specific phenylalanine tolerance.
Affected Populations
The reported incidence of PKU from newborn screening programs ranges from one in 13,500 to 19,000 newborns in the
United States. PKU affects people from most ethnic backgrounds, although it is rare in Americans of African descent and
Jews of Ashkenazi ancestry.
Standard Therapies
TREATMENT
The goal of treatment for PKU is to keep plasma phenylalanine levels within 120 μmol/L to 360 μmol/L (2-6 mg/dL). This is
generally achieved through a carefully planned and monitored diet. Limiting the child’s intake of phenylalanine must be
done cautiously because it is an essential amino acid. A judiciously maintained diet can prevent intellectual disability as well
as neurological, behavioral, and dermatological problems. Treatment must be started at a very young age or some degree
of intellectual disability may be expected, although some late-treated children have done quite well. Studies have shown
that timely initiation of dietary therapy following the diagnosis of PKU in a newborn infant AND long-term control of plasma
phe levels are critical to assure normal development and cognition.
If people with PKU stop controlling their dietary intake of phenylalanine, neurological changes usually occur. IQs may decline.
Other problems that may appear and become severe once dietary regulation is stopped include difficulties in school, behavioral
problems, mood changes, poor visual-motor coordination, poor memory, poor problem-solving skills, fatigue, tremors, poor
concentration, and depression, to name a few.
After years of controversy, today there is nearly universal acceptance among clinicians that the diet needs to be continued
indefinitely, and that adults with PKU who stopped the diet in childhood or beyond should return to the diet. Many young adults
have restarted the diet and found improvement in mental clarity as a result of lowered phenylalanine levels in their blood.
continued on page 35 33
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 Meet PKU Warrior K AY
Kay
I am Kay Mueller Emerson and I have PKU. My older brother, Keith, and I were born before newborn
screening. Keith was diagnosed with PKU a few months before I was born, which is why the doctors were
waiting to test me as soon as I was born. I was put on the diet from birth until 10 years of age. I was the first
person treated for PKU in the state of Wisconsin and one of the first early treated in the United States. It is
for this reason my diet was very closely monitored and extremely strict. Yet with all this I felt very blessed.
I was getting the very best care available at the time. My mother always made me feel proud of my PKU and
my diet. She took what little she had to work with and made it quite spectacular. The cookies I took to school
for milk-and-cookie time were always nicely decorated and very memorable. It was when I returned to the
diet 32 years later that I realized how much love and care she put in all that she did.
I was an active child who loved ballet, tap, and swimming. I attended day camp every summer, both on and
off the diet. I had very few problems with the diet while growing up; my problems occurred when I was taken
off the diet. I was always a fussy eater, but the high-protein food was even harder for me to eat. When it
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came to drinking cow’s milk I hit a few bumps along the way because I really hated it. My mother and I fought
over it every day. We discovered a solution when I was sick around Christmas one year: My mom offered
me egg nog and I loved it. She even found egg nog crystals to add to my milk. As a teen I started giving
speeches and demonstrations in my classes about PKU. This started my education at the clinic on how to be
in the public eye and prepare me for a future where I can represent the PKU community.
After graduating high school I entered the Edgewood College education program. While in college,
I discovered I have a real gift for foreign language and a natural talent for the piano. On May 15, 1982
I graduated Edgewood with a BS in education and a minor in psychology. Soon after I graduated college
I met David Emerson and we married a year later. I taught in the Madison, Wisconsin area preschool systems
for more than 20 years. In 2011 I returned to the diet for life. I am now an administrator of two blogs on
Facebook: Glass Half Full, a blog about the positive side of life and the world around us and Katie’s Kitchen,
featuring PKU and non-PKU recipes and menus. I enjoy sewing by hand, needlework, and reading.
© 2019 Trio Health Advisory Group, Inc.; NORD - National Organization for Rare Disorders, Inc.
What is P K U ?
continued from page 33
Because phenylalanine occurs in practically all natural proteins, it is impossible to adequately restrict the diet using natural
foods alone without compromising health. For this reason, special phenylalanine-free food preparations are helpful. Foods
high in protein, such as meat, milk, fish, and cheese are typically not allowed on the diet. Naturally low-protein foods such
as fruits, vegetables, and some cereals are allowed in limited quantities.
In 2007, Kuvan® (sapropterin hydrochloride) was approved by the FDA to treat PKU. Kuvan, an oral pharmaceutical formulation
of BH4, is the natural cofactor for the PAH enzyme. It stimulates activity of the residual PAH enzyme to metabolize phenyl-
alanine into tyrosine, and should be used in conjunction with a phenylalanine-restricted diet. Kuvan is manufactured by
BioMarin Pharmaceutical Inc.
In 2018, Palynziq® (pegvaliase-pqpz) was approved by the FDA for adults with PKU. Palynziq is an injectable enzyme therapy
for patients who have uncontrolled blood phenylalanine concentrations on current treatment; it is also manufactured by
BioMarin Pharmaceutical Inc.
Investigational Therapies
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving US government
funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD,
contact the National Institutes of Health (NIH) Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov
Current clinical trials are also posted on the NORD website:
www.rarediseases.org
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
www.clinicaltrialsregister.eu
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 Meet PKU Warrior D AV I D Who we are: THE NATIONAL PKU ALLIANCE (NPKUA)
About
The National PKU Alliance (NPKUA) works to improve the lives of individuals with PKU and to pursue a cure. The organization
was created in 2008 by local groups of PKU families all over the country who recognized the importance of a national agenda
to serve the PKU community in research, advocacy, education, and support.

IN THE LAST DECADE, THE NPKUA HAS:

• Invested more than $3 million in research, which has led to new scientific knowledge about PKU
and accelerated the development of new treatments and a potential cure

• Connected the PKU community through a biennial patient conference, which attracts more than
600 attendees each year

• Launched the PKU Patient Registry to accelerate research and understanding of PKU

• Provided support to adults wanting to return to treatment

• Assisted women with PKU with the maternal PKU mentoring program and emergency
assistance program

• Advocated successfully with the FDA and NIH on the unmet medical needs in PKU and the
importance of new treatments and a cure

• Advanced technological innovation in the development of a home phenylalanine meter to

improve treatment

• Acted as the central source of scientifically based information on PKU for the patient community

ADDRESS PHONE FAX EMAIL ADDRESS WEBSITE

PO Box 1872 (715) 495-4008 (715) 713-0138 christine.brown@npkua.org www.npkua.org
Eau Claire, WI 54702-1872
David
My name is David Van Buren. I am 59 years old and I have classic PKU. I have a 61-year-old brother and two I was taken off the diet when I was 5; at that point I ate anything a non-PKU kid would eat. I was off diet
grandchildren, ages 5 and 7, and they have it, too. and remained untreated for 47 years! I returned to the diet and began to manage my PKU when my grand-
daughter was born; I wondered how would my life have been if I had stayed on the diet all those years.
When I was born in 1959 the medical community didn’t know what PKU was, let alone how to test for it. In
1961 my sister was born and the doctors tested her using the wet diaper test because the Guthrie test did not Today I am living life as an adult with PKU. I am struggling with the same things we all struggle with and
exist. She was negative and everyone was relieved. The doctors had observed me many times and said I was I am seeking ways to support anyone with PKU. I hope my story can encourage and enlighten because
not exhibiting any symptoms of PKU and that I didn’t need to be tested, but my mother had me tested and NO ONE IS IN THIS ALONE!
I was positive. I was put on the PKU diet.

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 Meet PKU Warrior C H R I S T I N A
PKU
IN THE REAL WORLD

Clinical Story
The PKU Patient Registry, powered by Nord, was designed to facilitate further research into PKU by providing insight into
patient demographics, family history, genetics, diagnosis, treatment, clinical results, and disease burden. The 525 patients
contributing to the registry as of September 2018 resided in 43 US states, Canada, China, the United Kingdom, Australia,
Germany, Belarus, Belgium, France, Ireland, Japan, Mexico, the Netherlands, Norway, Paraguay, Switzerland, Turkey,
or Uruguay. The registry population averaged 17 years old, with a range in age from newborn to 66 years, and was
predominantly female (59%) and Caucasian (96%). Most (82%) patients had commercial insurance coverage and the rest
were covered by government-sponsored plans.

When left untreated, patients with PKU are at risk of developing severe neurological complications, including IQ loss, memory
loss, concentration problems, mood disorders, and, in some cases, significant intellectual delay. Damage is irreversible,
so early detection is crucial. Patients in the registry were largely diagnosed via newborn screening, with only 5% (19/389)
detected later in life. Common comorbidities include anxiety (43%) and depression (26%); 53% of those with anxiety stated it
is a current problem, while 47% of those with depression said that is a current problem.

PKU may be treated by a diet low in phenylalanine and high in tyrosine. When treatment is begun early (within the first few
weeks of life) and rigorously adhered to, affected children can expect good development and a normal life span. Of those in
the registry, 76% of patients rated their health as very good or excellent, and 92% reported they are currently on a PKU diet,
the most common of which was low protein (82%). Challenges in insurance coverage, however, for medical and low-protein
continued on page 41

Age at Diagnosis (n=483) Participant Gender (n=514) Participant Race (n=502)

Christina 140 133
Life with PKU is definitely a journey filled with challenges and triumphs. My name is Christina and I am 38 on things. My biggest challenge with PKU is also the thing of which I am most proud—the birth of my three 120
years young and I have PKU. I am a wife, a mother of three healthy children (6, and 8-year-old twins), HEALTHY and amazing children. Handling the side effects of pregnancy, such as nausea, vomiting, fatigue, 99 <1% – Black

NUMBER OF PATIENTS
100 97
and a NICU nurse. I enjoy spending time with my family and friends, working out, and outdoor activities like bedrest, and hospitalizations to prevent preterm labor, my pregnancies were far from easy. Throw managing
skiing. If I am not busy running my children around, volunteering at the elementary school, or working at the my PKU diet on top of that and it took my pregnancies to another level. 41% – Male
80 72 1% – Asian
hospital, chances are you can find me in a P90X Insanity workout class or a spin class at the YMCA.
Prior to pregnancy, my levels were not 2-6 mg/dl and I often wondered if having healthy children was even 60
I was born in 1980 on a military base in Jacksonville, Florida, and I was diagnosed with PKU through newborn a possibility for me. Through the support of my family and my wonderful dietician, together with my own 44 2% – Other
40 38
screening. My diagnosis was not only a blessing to me, but for my family it was the answer to my older self-discipline and dedication, I was able to preplan meals and make daily food choices to maintain my levels 59% – Female
brother’s (at the time, 17 months old) developmental delays after the misdiagnosis of cerebral palsy. where they needed to be so I could one day hold my healthy baby in my arms. It was not an easy road, but 20 96% – White
every bit of it was worth it! PKU does not stop me from continuing to dream and do all the things life has in
Whether it’s having a baby with PKU transitioning from formula to table food, heading off to grade school store for me, but it is something that needs to be addressed. Throughout the years, I have learned if I take 0
to juggle academics, social situations with peers, sports, and/or extracurricular activities, leaving home to care of myself and my PKU, my body will take care of me, so anything I want or dream for my life is possible! <1 1-5 5-10 10-18 18-40 > 40
transition into the adult world to pursue and maintain a job/career, life with PKU definitely puts a little twist AGE IN YEARS

Age at diagnosis is distributed over a wide range, with a mean of 17 (n=483). Patients in the registry are mostly female (n=514). The majority of patients in the registry are white (n=502).

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 40% 2% – Pediatrician
30%
26%
19% 3% – Other
20% 18%
8% 7%
3% 4% 4% 11% – Oncologists

Meet PKU Warrior L I N D A

0%

PKU in the R E A L W O R L D 0-6 7-12 13-18 19-24 25-30 31-36

months months months months months months
OMS Registry (n=166) US Pop 2017 (EST)
3-17
years
Adult
83% – Neurologists

continued from page 39

The most common comorbidity among
Diagnoses (n=276) registry patients is anxiety (n=276). DoesSymptoms
the participant currently
at Onset have a
(n=150)
50%
Sleep Disturbances 100% problem with anxiety or depression?
Myoclonus (n=91) (n=67)
40%
100% Currently77%
a problem Not a problem today, but was in the past Unsure
77%
100%
80% 72%

PERCENTAGE OF PATIENTS
80% 69%
30% 80%
69% 72%
60%
60% 60%
40%
20% 40% ANXIETY
20% 53% 39% 8%
0% 20% 40% n=119
10%

vit Opsoclonus
Tremors

m tant rums
tis disturbances

Headache
Ataxi a

Vomiting
Fever
0%

Ataxi a
20%

Myoclonus
Opsoclonus
Tremors
Temper tant rums

Headache
Vomiting
Fever
0%

Temper
s

HD

y
ty
Patients who reported having anxiety

Sleep
ne

gi tr s

D/ s

pe ers
ho yc ea l

l r

Hy ord al
m
sio

yc Ps is ica
lo hia se

AD lnes
li o
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0%

s c
DEPRESSION

Ne AD
ze
bo

cti
ca ic

di gi
es
were more likely to report having a current

Au
47% 51% 2%

og
An

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ra
n=72

pr
en

st S s
s

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ng

he

ta m s

He ver
ng

he
ia

ia
ol

ol

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m s

Vo ms
Overall Symptom Prevalence at Onset

ba ep

r r

ru r
or
nu

nu

nu

Te or
Vo um
nt pe

nt pe
d

ax

ax
(n=150) problem, while those who reported

De

iti

iti
T nc

ac

ac
at

ur
Overall Symptom Prevalence at Onset

ok

em

em
Fe

Fe
ur le
clo

clo

clo
At

At

m
ad

ad
rm
Br

Tr

Tr
so

yo

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(n=150) depression were more likely to have had

Op

Op
M
De

di
Overall Symptom Prevalence at Onset
problems in the past.

ps
food exist; 81% of patients indicated problems for food types at some point, despite meeting the criteria for medical necessity
as set forth by their insurance company. When patients are able to follow the PKU diet, they generally report feeling well.

With continued data collection from the NPKUA registry, awareness of issues around insurance coverage and the burden of
disease will increase.

NPKUA is a vital voice within, and on behalf of, the PKU community. We serve a dual mission: to improve the daily lives of
those individuals and families affected by PKU, and to accelerate the timeline for a cure by investing in peer-reviewed and
targeted research.

Is the participant currently following a PKU diet? Participant Overall Health (n=324) Diet Type (n=351)
(n=348) 50%
46%

40%
Linda

PERCENTAGE OF PATIENTS
3% – Regular
8% – No 30%
30%
Hello, my name is Linda Cywin; I am 1 of 4 children and 3 of us have PKU. I was 6 months old when I was I had a huge issue with my levels when I was first on the study; they were very high (30), and it was extremely 3% – Vegan
diagnosed with PKU, and I was put on the diet until I was 8 years old. Back then the diet was very hard difficult to deal with, but it was well worth the energy to do this. I was 1 of 6 patients chosen to speak to the
20% 19% 5% – Other
because everything had to be counted and the (milk) formula tasted so nasty. My father used to put maple FDA about getting Palynziq approved, and I am proud to say that it was approved on May 4, 2018. It was an
syrup in it to get me to drink it. It’s amazing all the different things to treat PKU and all the research being honor to tell the FDA that those of us with PKU need and deserve to have something that would allow us to 92% – Yes
done to help us to treat it the way that is best for us. live a normal life. 10% 7% – Vegetarian
4%
I had the pleasure of being in a study for Palynziq® for 7 years to help those of us with PKU be able to live a I am proud to share my story about my life with PKU and my struggles with the disease. I hope that people 1% 82% – Low Protein
0%
more normal life. We soon learned that if I were given the medication a little at a time, that it was much better with PKU know that they are not alone and that those who support us have an idea of what it is like for us.
Excellent Very good Good Fair Poor
than giving it to me all in one dose, as I had once experienced a 10-day reaction which included hives, itching, There are so many things now available to us so that we may educate families and caregivers on how to best
swelling, and pain in both my hands and feet. It was easily fixed by Benadryl and a week’s respite from the help and understand the many issues related to PKU.
meds before slowly re-introducing them back into my body so it was not such a shock tomy immune system. 92% of patients reported currently following a PKU diet (n=348). 76% of patients reported they would describe their overall health as Most (82%) of the patients who reported following diets reported
very good or excellent (n=324). following a low-protein diet (n=351).

40 41
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