1. Phenylketonuria (PKU)
Angela Yang, Jenny Yang
3rd period – Mrs. Nguyen

2. Basic Definition of PKU
Phenylketonuria is a genetic disorder where the body’s enzyme, phenylalanine hydroxylase (PAH), is missing or malfunctioning so that it cannot properly break down the amino acid, phenylalanine (phe).

3. Basic Definition of PKU
Phe is found in food containing proteins, but without PAH, consumption of such foods would lead up to a build-up of phe. The high level of phe affects the nervous system and other physical features.

4. Symptoms Mental Retardation Seizures Microcephaly (small head size)
Skin rashes
Stunted growth
Hyperactivity
“Musty” body odor from the excess phenylalanline
Fair skin, hair, and eyes (phenylalanine is linked to melanin production)

5. Life of a PKU patient
People living with PKU must adhere strictly to a low phenylalanine diet for life, although it may be relaxed later in life
Sweeteners containing aspartame (which contains phenylalanine) are to be avoided
High protein foods such as meat, milk, and eggs are avoided
PKU patients drink a special formula to compensate for the crucial vitamins and minerals in high protein foods

6. Life of a PKU patient
Women with PKU who are on a normal diet must resume the low-phenylalanine diet, as the high levels of phenylalanine in their bodies would hurt a fetus
PKU patients are monitored closely by their doctors to determine exactly how much phenylalanine the patient needs and can tolerate
In conclusion, PKU patients must be extremely careful about what they eat, but otherwise live a relatively normal life

7. Treatment & Prevention
PKU is usually diagnosed after birth with a blood test taken from the infant’s heel or the crook of their arm.
If there are abnormal amounts of phe, then further tests (blood and urine) are taken to ensure that the child has PKU.
Another option of diagnosis is through the chorionic villus sampling (CVS) process.

8. Treatment & Prevention
Once diagnosed, babies are fed diets containing protein without phenylalanine for the first 7-10 days.
Special infant formula called Lofenalac
Recently, there’s been a special medical (pill) formula discovered for PKU patients called Kuvan.
It’s possible to have a wide range of PKU, from mild to severe, but it’s suggested to stick to a diet regiment for life.

9. Treatment & Prevention
There’s usually a general list of foods that should not be consumed for PKU patients like:
Dairy
Milk, eggs, Cheese
Nuts
Beans
Peas
Meat (Poultry, beef, pork, duck etc.)
Chocolate

10. Treatment & Prevention
Unfortunately, if PKU is already diagnosed in an infant, there are no preventive measures one can take for their child to not have PKU.
If a pregnant individual has PKU, then she’s able to prevent her child from PKU symptoms if she follows a diet low in protein.

11. How do you get PKU?
PKU can be traced to a recessive trait on chromosome 12
PKU results when the recessive form of the phenylalanine hydroxylase (PAH) producing gene is inherited from both the mother and father
For someone to have PKU, they must be homozygous recessive for the trait
Carriers show no outer symptoms

12. PKU History
1934: Dr. Folling of Norway discovers PKU, calling it “imbecillitas phenylpyruvica.”
1935: Dr. Penrose, a British medical geneticist, renames “imbecillitas phenylpyruciva” to what we now know as “Phenylketonuria”
1937: Dr. Jervis discovers PKU is caused by the malfunctioning of the enzyme PAH.
1951: Dr. Hickmans and Dr. Bickel develops the first diet treatment. This also made their discovery that early treatment of PKU is crucial in their first steps to mental retardation

13. PKU History
1957: Maternal PKU is identified. When women with high levels of phe in their blood gives birth to babies with PKU symptoms
Dr. Centerwall develops the “Wet Diaper” Test where the excretion of phenylpyruvic acid allows diagnosis of PKU in infants.
1958: Lofenalac, a formula made from hydrolyzed milk protein, is approved by the FDA to be low in phe and a treatment for PKU.

14. PKU History
1960: Dr. Guthrie develops the Guthrie Test, a filter paper screening test for PKU, which makes detection of PKU possible at birth.
1967: 37 states have mandatory newborn screening laws for PKU.
2007: Kuvan, a synthetic version of the missing PAH enzyme, is the first drug (pill) approved by the FDA to lower blood phe levels in some people with PKU. Though it hasn’t been specified for pregnant women yet.

15. Sources
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Lee, Kimberly G., and David Zieve. "Phenylketonuria - PubMed Health." PubMed Health. A.D.A.M., Inc., 17 June Web. 12 Nov <
"PAH - Phenylalanine Hydroxylase - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 7 Nov Web. 12 Nov <

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18. Sources
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19. Sources
National PKU News. Web. 13 Nov <

20. Sources