Hammond 1

Marisa Hammond

Penny Sobocinski

English Composition II

11 March 2020

Phenylketonuria and the Effect It Has On One’s Body

“The NPKUA estimates there are currently 16,500 people living with PKU in the

United States.” (NPKUA 2020). That’s not a lot of people and is about one third of the

population in Kettering, Ohio. My boyfriend is one of those special thousands of people in

the United States. We have been dating for almost three years and I still don’t know much

about this disorder. He didn’t tell me until we had been dating for a couple months, but when

he did tell me, I was so scared because I didn’t know what it was or what it could do to him.

Like myself, not many people know or understand what PKU is because of how rare it is, but

it would be good for people to know more about this disease and how it affects the body of

someone who has it. Phenylketonuria is a genetic disorder where the body can’t digest

protein because of the absence of the enzyme called phenylalanine hydroxylase. PKU can do

many things to the body from the womb to adulthood including seizures, memory loss, and

intellectual disabilities, but can be managed with the right diet rather than the shot called

Palynziq.
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This paper is organized so that each paragraph describes a different aspect of PKU.

Each paragraph relates to the topic and the thesis statement of the paper. The paper is

organized into the following paragraph topics in this order; what is PKU, what are the causes,

the history of PKU, signs and symptoms of PKU, childhood screening for PKU, Diet of

someone who has PKU, how does PKU change as one gets older, pregnancy and PKU, and

medications someone must take having PKU. Each topic is thoroughly described in the

designated paragraph, with many scholarly references throughout.

PKU is very rare and only occurs “One in 13,500 to 19,000 newborns in the United

States” (NORD 2019). Like stated above in the introduction, it is a genetic disorder where

one's body can’t break down amino acids because of a lack of the enzyme called

phenylalanine hydroxylase. The lack of phenylalanine hydroxylase causes the accumulation

of a substance called phenylalanine in the blood, negatively impacting the brain of someone

who has this disease. There are screening tests for babies within the first couple days of birth

to find out if a baby has phenylketonuria (NPKUA 2020). If the baby does have

phenylketonuria, then the parent is referred to a genetic counselor who will meet with that

person for the rest of their life. People who are of Irish or Turkish background have the

highest risk for getting PKU (Boston Children’s Hospital). A person with PKU will meet

with their genetic counselor as often as the doctor feels the patient needs. They will do blood

tests to figure out the levels of Phenylalanine in the blood, they will discuss what your diet
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should be based on the test results, they will discuss new medication or new products for

PKU, and many other things.

For the small number of people who do end up getting PKU, they get it genetically

from their parents. Even though the parents of someone with PKU may not have the disease,

they get it from their parents genes. A defective gene that both the mother and father carry,

causes a child to have PKU, which causes the child to have a lack of or deficiency of the

enzyme needed to break down phenylalanine (Mayo Clinic 2018). This type of pass on,

recessive gene from mother and father to the child, is called an autosomal recessive

inheritance pattern (NORD 2019)(Mayo Clinic 2018). If only one parent passes on the gene

for PKU, then the child will be a carrier of PKU and won’t have the disease (NORD 2019).

There are over 300 mutations of PKU, meaning there are different levels of severity

including mild, moderate, or severe (NORD 2019).

Phenylketonuria was discovered in 1934 in Norway by a man named Dr. Asbjørn

Følling (Schuett 2020). Asbjørn took on a case that no doctor could figure out the answer to.

The case concerned two mentally ill kids (brother and sister) and the mother wasn’t sure why

they were like that and advice on how to better take care of them. He started with urine

samples from each of the kids, and when ferric chloride was added to it, it turned deep green,

which is a color that had not yet been seen or noted by any other doctor. He was puzzled and

went on to study what the basic nature of the substance was. He found out that the substance
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was identical in property to that of phenylpyruvic acid (Schuett 2020). He thought that there

was a correlation between the acid and why the kids were mentally ill. He studied almost 450

more mentally ill people and found that their urine also turned the deep green color in the

ferric chloride (Schuett 2020). He came to the conclusion that all of these people had the

same metabolic disorder, which they called “​oligophrenia phenylpyruvica” (Schuett 2020).

He furthered his study and found that the reason those people were excreting phenylpyruvic

acid was because they were unable to digest phenylalanine normally (Schuett 2020). The

reason people were becoming mentally ill was because people didn’t know what the disease

was and let their children eat/drink protein and breast milk, which have the indigestible

substance phenylalanine in it.

For someone who isn’t/wasn’t tested for PKU when they were a baby, they will have

a lot of signs and symptoms that might lead them to knowing they have PKU. Although signs

and symptoms aren’t that noticeable right at birth, a person will start to notice within the first

couple months when the baby starts to develop. A parent will notice that their baby is weak

and feeds poorly (NORD 2019). Some other symptoms that occur near birth are vomiting,

irritability, and/or a red rash that has little pimples in it (NORD 2019). Within the first couple

weeks of birth, neurological disturbances occur, including epilepsy and seizures (NPKUA

2020). Intellectual impairment can start to be seen several months into a child’s life with

PKU. Children with untreated PKU have an IQ of 50 or less (NORD 2019). Also, most

untreated children have a blonde or light hair color, light eye color, and light skin color.
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Throughout the life of someone with PKU, they can/will “have a ‘musty or mousy’ odor of

skin, hair, sweat and urine (due to phenylacetate accumulation),” (NORD 2019)(NPKUA

2020)(Mayo Clinic 2018). Many people with PKU have different skeletal changes like flat

feet, small head, and short stature. In adults with PKU, some neurological symptoms include

seizures, tremors, tight muscles, abnormal muscle movements, increased reflexes, unusual

hand posturing, and jerking hand and leg movements (NORD 2019)(NPKUA 2020).

Children and adults with PKU can be hyperactive, have EEG abnormalities, and learning

disabilities, and a skin disorder known as eczema (NPKUA 2020). In severe cases of

untreated PKU, one will most likely have, “Behavioral problems, developmental delays, and

severe intellectual disabilities” (NPKUA 2020).

Newborn screening for PKU started in the mid 1960’s and is now a requirement in all

50 states. It is a test that “Usually children are tested at least 12 hours and generally 24–28

hours after birth[8], using a blood sample drawn from the heel of the foot.” (Medline Plus

2020)(NPKUA 2020). There are no risks with this test except that the baby will feel a quick

pinch and the needle injection site might bruise a little bit. This test gets its most accurate

results after the baby has drunk breast milk from his/her mother. This is because there is

protein in a woman’s breast milk. This test detects if there is a large amount of phenylalanine

in the blood. The metabolic disorder blood test is completed after the newborn screening test

to verify the results as accurate. This test is done by drawing blood out of the baby’s arm and

also collecting a urine sample within the first week of birth (Boston Children’s Hospital).
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Some babies in other countries don’t have such a thing as newborn screening to test for many

diseases including PKU. If one adopts a child from another country, doctors advise them to

get tested right away for PKU and many other diseases. If a baby does not test positive for

PKU, doctors may keep testing for a couple days just to make sure it isn’t a false negative.

They will especially do this if it was done less than 24 hours after birth (Medline Plus 2020).

If a baby tests positive for PKU in the screening test, then the doctor will give the family a

special formula that doesn’t contain Phe in it (Medline Plus 2020). Depending on how severe

the baby’s PKU is, the doctor may allow mothers who want to breastfeed their baby, do it

occasionally. Even though the baby may be able to have a little bit of breast milk, it must be

complemented with the formula that has no Phe in it (Medline Plus 2020). This test has

helped many children prevent intellectual and neurological problems that they could have by

catching and treating the disorder right away.

Many foods are restricted for people with PKU and they have a certain diet that they

need to follow. This special diet must be started no later than 2-3 weeks after a baby is born,

so it is crucial to get a screening test for it right away. Someone with PKU should eat foods

with a low amount of phenylalanine in them to prevent a toxic buildup of phenylalanine in

the bloodstream (Mayo Clinic 2018)(Trahms 2008)(NORD 2019). At most, people with

PKU can only eat 6-7 grams of protein a day, while people without this disease can eat 50-60

grams a day (Hedgpeth 2020). Specifically, “Milk and dairy products, meat, fish, chicken,

eggs, beans, and nuts contain very high Phe levels and must be excluded from the diet,”
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(Biomarin 2020). Doctors suggest that people with PKU eat lots of fruits, vegetables, juices,

and low protein bread and pastas. The chart below shows better what foods are high and low

in phenylalanine and what people with PKU should avoid (Chart- New England Consortium

for Metabolic Programs 2013). Since people with PKU lose many important nutrients from

their strict diet, they drink a special formula every night, which makes up for the lack of

protein, vitamins, minerals, and energy (Trahms 2008). The prices of modified food for

people with PKU is expensive in current society and things like, “An eight-ounce box of

pasta for someone with PKU costs about $15, and a loaf of bread can cost more than $10.”

(Hedgpeth 2020). It is suggested to follow this diet for life if one has PKU.

(New England Consortium for Metabolic Diseases 2013- Chart shows different foods and if

they are high or low in phenylalanine)

This disease doesn’t just go away, but there is a new kind of medication that lowers

the amount of phe in one’s blood. The medication is called palynziq and is given to a person
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in the form of a shot into the stomach. Palynziq was approved by the FDA in 2018, so it is

fairly new. This shot allows people to eat foods like shrimp, yogurt, macaroni and cheese,

and pizza, if the doctor says a person’s levels are low enough and that the shot is working

(Hedgpeth 2020). Some doctors and patients believe that this medication is not worth it due

to all of the side effects it can have including anaphylaxis, hypersensitivity reactions, and

arthralgia. While other doctors believe that, “ ‘Palynziq provides another much needed tool

for us to help adult patients control their Phe levels, which previously had not been

achievable for many adults living with the condition,’ said Cary Harding, M.D., professor at

Oregon Health & Science University and investigator for the Phase 3 studies,” (NPKUA

2020).

The first three years of someone with PKU is crucial, but does become a little less

crucial as one ages. One must make sure their baby is on the proper diet so that they won’t

get negatively affected by PKU. Pregnant women also need to take the correct precautions if

they have PKU and are carrying a baby. As someone with PKU is developing and they are

growing cognitively and physically, they need to make sure they are eating right and taking

their formula when required. Many doctors and dieticians believe that if adults or teens have

stopped following the low-phenylalanine diet and taking their PKU medication, then they

should return to them and continue them indefinitely (NORD 2019). If one stops taking

precautions for long enough, they may experience neurological changes including IQ

changes, fatigue, mood changes, or poor visual-motor coordination. People who have gone
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off of the low-phenylalanine diet and came back onto it have noticed that they are mentally

more prepared and clear (NORD 2019).

A woman who is pregnant and has PKU, must maintain low levels of Phe throughout

the whole pregnancy and even before conception to protect herself and her baby, even though

the baby will most likely not get PKU unless the father is a carrier as well. It is said that the

diet for someone with phenylketonuria is more strict during pregnancy than it is in early

childhood. Women can harm their baby before and throughout their pregnancy. Having too

much phenylalanine in the blood and body, the mother can cause phenylalanine to cross the

placenta, making the baby have congenital heart disease, growth retardation, microcephaly,

and intellectual disabilities (NPKUA 2020). At the extreme, women with PKU who don’t

take care of themselves can end up possibly having a miscarriage or other growth

development problems (NORD 2019). The higher one’s phenylalanine levels are, the higher

risk their baby is for a more severe type of PKU. If someone has PKU and is planning on

getting pregnant doctors suggest that they follow a low-phenylalanine diet, which includes

eating no meat, dairy, or any other food that is high in protein. Also, doctors suggest that

women go see a genetic counselor to better understand PKU and how it is passed through

their family tree (Mayo Clinic 2018).

Someone with PKU must not only follow a low-phenylalanine diet, they must also

take medication along with a formula drink everyday. The National PKU Alliance described
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different aspects of PKU, including a medication they must take. On their website they

stated, “Kuvan®, a prescription drug, causes residual enzyme activity to work harder to

reduce blood Phe levels and has been effective in reducing blood Phe levels in some people

with PKU.” (NPKUA 2020). Kuvan was approved by the FDA in 2008. Kuvan may not

work for everyone, but for the people that can use it, it increases their tolerance to

phenylalanine. Another type of substance to help with the diet of someone with PKU is a

neutral amino acid supplement (Mayo Clinic 2018). This supplement is given in the form of

a tablet or powder and blocks some of the absorption of phenylalanine (Mayo Clinic 2018).

The amount of formula needed daily is determined by one’s medical professional and the

type of formula needed between infants and adults is different.

Phenylketonuria is a very rare genetic disorder that doesn’t allow one to digest

protein, but it is manageable. It can do many things to the body if it isn’t found and treated

right at the beginning of one's life. It can cause seizures, epilepsy, eczema, intellectual

disabilities, behavioral problems, a small head and flat feet, musty smelling urine, skin, and

breath, and also tremors or jerking of the hands and legs. Even though people with PKU feel

that they are missing out on having a normal life, they aren’t and the foods that their diet

restricts them to are healthy and many people eat the same way (no/little protein/dairy). The

only thing that is different from someone that has PKU is the diet they are restricted to and

the formula they have to drink daily. People with PKU could even expand their diet by

having the palynziq shot daily, which brings phe levels way down and even to zero to the
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point where they can eat fish, dairy, and little meat. This disease is tolerable if one eats the

right stuff and takes the medications prescribed to them. I am glad that I did research on this

disease. It was very interesting and I got to learn more about my boyfriend. This will better

allow me to know what he can and can’t eat and what he needs to do daily to keep his

phenylalanine levels down. Also, I can teach him things that he may not be fully aware of

about this disease.

Works Cited

“About PKU” National PKU Alliance, 2020

https://www.npkua.org/What-is-PKU/About-PKU​ Accessed on March 6, 2020.

Hedgpeth, Dana. “Few People Know of Her Daughter’s Genetic Disorder. A Mom is Skiing

125 Miles Across Norway to Change That.” The Washington Post, 12 February 2020.

https://www.washingtonpost.com/lifestyle/2020/02/12/few-people-know-her-daughter

s-genetic-disorder-mom-is-skiing-125-miles-across-norway-change-that/

Accessed on March 6, 2020

Mayo Clinic Medical Staff. “Phenylketonuria (PKU).” Mayo Clinic, 27 January 2018.

https://www.mayoclinic.org/diseases-conditions/phenylketonuria/symptoms-causes/sy

c-20376302?page=0&citems=10​ Accessed on March 8, 2020

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“PKU Primer for Adolescents and Adults” New England Consortium for Metabolic

Programs, 18 September 2013.

https://newenglandconsortium.org/for-families/phenylketonuria-pku/pku-primer-for-a

dolescents-and-adults/​ Accessed on March 30, 2020. (Chart has no author or name)

“Phenylketonuria (PKU) Screening” Medline Plus, 26 February 2020.

https://medlineplus.gov/lab-tests/phenylketonuria-pku-screening/​ Accessed on March

8, 2020

“Phenylketonuria.” ​NORD (National Organization for Rare Disorders)​, 2019

https://rarediseases.org/rare-diseases/phenylketonuria/​ Accessed March 2, 2020

Schuett, Virginia. “The Discovery of PKU” National PKU News, 2020

https://pkunews.org/the-discovery-of-pku/​ Accessed on March 2, 2020

Trahms, Cristine. “What is the diet for PKU?” University of Washington- Crisine M. Trahms

Program for Phenylketonuria, 2008. ​https://depts.washington.edu/pku/about/diet.html

Accessed on March 2, 2020