PKU Symptoms – PKU disease is a rare genetic disorder that causes an amino acid called phenylalanine to build up in the body. PKU may lead to serious health problems, including mental retardation, if not treated early and correctly. PKU disorder is inherited and affects about 1 in 15,000 people in the United States. PKU is more common in people of Northern European descent. PKU happens due to a mutation in the gene that helps break down phenylalanine. People with PKU disorder cannot break down phenylalanine, which builds up in their bodies. Phenylalanine makes up many foods, especially protein-rich foods. PKU may be diagnosed with a blood test and treated with a special diet that limits phenylalanine and medication.
PKU Causes, Risk Factors, and Symptoms
PKU causes include mutation, or change, in the gene that controls the activity of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine. If the enzyme doesn’t work correctly, phenylalanine cannot break down, and it builds up in the blood. The build-up of phenylalanine may cause serious health problems.
PKU disease comes from a person’s parents. In most cases, both parents must have a copy of the mutated gene for their child to inherit PKU. However, in some cases, only one parent needs to have the mutated gene for their child to inherit PKU. In rare cases, PKU can occur even if neither parent has the mutated gene, called spontaneous mutation.
PKU occurs more often in people of Northern European descent, but it may happen in any ethnic group. PKU affects about 1 in 15,000 people in the United States. In some parts of the world, PKU is more common. For example, in Turkey, 1 in 2, 500 people have PKU.
There are no known causes or risk factors for PKU other than having a family member with the disorder. However, pregnant women with PKU need to be careful about their diet because high phenylalanine levels may cause severe congenital disabilities or miscarriages. Women suffering from PKU while pregnant receive the name of maternal PKU. Women with less severe forms of PKU still pose a risk to their babies if they do not follow the correct diet and care instructions.
Infants born to mothers with high phenylalanine levels do not frequently develop PKU. Instead, they may have severe effects if the phenylalanine levels of the mother read high during pregnancy. Complications may include:
– Delayed development
– Abnormalities in the face
– Small head (abnormally small)
– Low birth weight
– Heart problems or heart defects
– Behavioral problems
– Intellectual disability
PKU symptoms usually appear in the first few weeks of life. Babies with PKU may have these symptoms:
– Pee that smells like maple syrup
– A musty or mousy body odor
– Poor appetite
– Difficulty gaining weight
As they get older, children may develop these PKU symptoms:
– Behavioral problems
– Delayed development (mental retardation) if PKU is not treated early and correctly
If an individual has Pku disease, it is vital to see a doctor for regular checkups. The doctor will probably do a blood test to check the Phe level. Phe is the abbreviation for phenylalanine. If the Phe level is high, a person may need treatment with a low-protein diet and medication. They will also need to avoid foods that are high in Phe.
In the following situations, it is crucial to seek medical advice:
– Newborns: All babies in the United States receive testing for PKU at birth. If a baby has PKU, it is essential to start treatment immediately.
– Pregnant women: If a woman has PKU and is pregnant, they require treatment with a low-protein diet and medication. High levels of Phe may cause severe congenital disabilities or miscarriages.
– Women who are thinking about getting pregnant: If a woman has PKU, they require treatment with a low-protein diet and medication before they get pregnant. This diet will help lower their Phe level and reduce the risk of congenital disabilities.
– Adults: If a person has PKU and does not receive treatment, they should see their doctor. PKU may cause serious health problems if left untreated.
Diagnosing PKU and Complications
PKU is usually diagnosed at birth with a blood test. In some cases, PKU may not get diagnosed until later in childhood. If PKU is not diagnosed at birth, it may get diagnosed when a child does not meet certain developmental milestones or when a child has learning difficulties.
A doctor may confirm a diagnosis with a blood test called the phenylalanine hydroxylase test. This test measures the level of phenylalanine in the blood. A Phe level that is higher than average may indicate PKU.
If PKU is suspected, a doctor may do a second blood test to confirm the diagnosis. This test measures the level of phenylalanine in the urine. A Phe level higher than usual in the urine may also indicate PKU.
In some cases, a doctor may do a genetic test to confirm a diagnosis of PKU. A genetic test looks at a person’s DNA to see if they have a mutated gene that causes PKU.
If PKU is left untreated, it may cause serious health concerns. PKU leads to intellectual disability and mental retardation. PKU also causes seizures and behavioral issues.
PKU causes complications during pregnancy. If PKU is left untreated before pregnancy, it may cause severe congenital disabilities or miscarriages. PKU may also cause low birth weight, small head size, and heart defects, as mentioned previously.
PKU Treatment and Prevention
If PKU is left untreated, it may cause serious health problems. These issues include mental retardation, seizures, and behavioral issues. PKU treatment consists of a low-protein diet and medication.
A low-protein diet helps keep Phe levels under control. A person will need to eat foods low in Phe and take unique formulas or supplements. They will also need to limit how much protein they eat from meat, poultry, fish, dairy products, eggs, nuts, and beans. A doctor or dietitian can help plan meals that are right for the patient.
A person may also need to take medication to lower their Phe level. Medication used to treat PKU includes Kuvan and PEG-Phen. These medications are taken by mouth.
If a person has PKU, they need to see their doctor for regular checkups. They will need to have their blood and urine tested regularly. They may also need to have a liver biopsy; a test used to check for damage to the liver from high Phe levels.
Furthermore, they will also need to take care of their teeth and gums. People with PKU are at risk for gum disease. They need to brush and floss their teeth every day. They may also need to see a dentist or periodontist (a gum specialist) more often than people who don’t have PKU.
If a person has PKU, they may take steps to prevent health problems. These steps include following a low-protein diet and taking medication as prescribed. They will also need to see their doctor for regular checkups.
People may also help prevent PKU by getting screened for PKU before getting pregnant. PKU screening is done with a blood test. If a person has PKU, they may take steps to lower their Phe level before getting pregnant, which will help reduce the risk of congenital disabilities.
PKU screening is also done on newborn babies. Newborns in the United States receive screening for PKU at birth. If PKU gets diagnosed early, treatment starts right away. Early treatment helps prevent health difficulties later on.
PKU can be a severe condition, but with treatment, most people with PKU lead healthy lives.
PKU Disorder: Foods to Avoid
PKU is a condition that requires a special diet. People with PKU need to avoid foods high in protein, as well as certain other foods.
Some of the proteins’ people with PKU need to avoid include meats, poultry, fish, dairy products, eggs, nuts, and beans. These foods are all high in phenylalanine.
In addition to avoiding high-protein foods, people with PKU also need to avoid certain other foods. These include:
– Aspartame: This is an artificial sweetener found in some sodas and other sugar-free products. Stores also sell it as a tabletop sweetener. Aspartame contains phenylalanine, so people with PKU should avoid it.
– Soy products: Soy milk, tofu, and soy sauce contain phenylalanine.
– Chocolate: Chocolate is high in phenylalanine, so people with PKU should avoid it.
– Bananas: Bananas are high in potassium. People with PKU need to avoid foods high in potassium because they cannot process it properly.
– Orange juice: Orange juice is also high in potassium.
– Honey: Honey is a natural source of sugar. People with PKU should avoid it because it contains phenylalanine.
PKU formula is a unique formula made for people with PKU. It is low in protein and phenylalanine. Doctors usually prescribe this formula to babies who are born with PKU. PKU formula may also get prescribed to some adults with PKU. Adults with PKU may need to take this formula if they cannot control their Phe levels with diet alone.
PKU formula is available by prescription only. A doctor will work with a patient to find the right type of formula for their needs.
There are several brands of PKU formula available, including Phenex-2, Phenyl-Free, and PheNOMal.