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| PKU test |
PKU is a rare hereditary disorder that causes an amino acid called phenylalanine to accumulate in the body. Protein is constructed from amino acids. All proteins and certain artificial sweeteners include phenylalanine.
Phenylalanine hydroxylase is an enzyme that your body utilizes to convert phenylalanine into tyrosine, which is required for the production of neurotransmitters such as adrenaline, norepinephrine, and dopamine. PKU is caused by a mutation in the gene that codes for phenylalanine hydroxylase. When this enzyme is deficient, your body is unable to break down phenylalanine. This causes phenylalanine to accumulate in your body.
In the United States, babies are checked for PKU immediately after birth. In this nation, the illness is rare, affecting just approximately 1 in 10,000 to 15,000 babies each year. In the United States, severe PKU signs and symptoms are uncommon since early screening allows treatment to begin soon after birth. Early detection and treatment can help ease PKU symptoms and avoid brain damage.
WHAT ARE THE SYMPTOMS OF PKU?
PKU symptoms can be moderate to severe. Classic PKU is the most severe type of this illness. For the first several months of life, a newborn with typical PKU may seem normal. If the baby is not treated for PKU at this period, the following symptoms will emerge:
- Tremors, or trembling and shaking
- A musty odor emanating from their breath, skin, or urine
- Eczema and other skin disorders
If PKU is not detected at birth and treatment is not initiated promptly, the disease can result in:
- Within the first several months of birth, irreparable brain damage and intellectual impairments
- Seizures and behavioral issues in older children
Variant PKU, also known as non-PKU hyperphenylalaninemia, is a milder type of PKU. This happens when the baby's body contains an excess of phenylalanine. Infants with this kind of the condition may only have modest symptoms, but they must adhere to a particular diet to avoid intellectual deficits.
Symptoms begin to fade after a certain diet and other essential therapies are initiated. People with PKU who follow a healthy diet seldom have symptoms.
WHAT ARE THE CAUSES OF PKU?
PKU is a hereditary disorder caused by a PAH gene mutation. The PAH gene contributes to the production of phenylalanine hydroxylase, the enzyme responsible for the breakdown of phenylalanine. When eating high-protein meals like eggs and meat, a hazardous accumulation of phenylalanine can result.
For their child to inherit the condition, both parents must pass on a faulty variant of the PAH gene. If only one parent passes on a mutated gene, the kid will not show symptoms, but they will be a carrier of the gene.
HOW IS PKU DIAGNOSED?
In the United States, hospitals have regularly evaluated babies for PKU by obtaining a blood sample since the 1960s. A doctor will collect a few drops of blood from your baby's heel using a needle or lancet to screen for PKU and other genetic diseases.
When the infant is one to two days old and still in the hospital, the screening test is conducted. If you do not give birth in a hospital, you must schedule the screening test with your doctor.
Additional tests may be undertaken to confirm the preliminary findings. These tests look for the presence of the PKU-causing PAH gene mutation. These tests are frequently performed within six weeks after delivery.
If a child or adult exhibits PKU signs, such as developmental delays, a blood test will be ordered to confirm the diagnosis. A blood sample is drawn and analyzed for the presence of the enzyme required to break down phenylalanine.
WHAT ARE THE TREATMENTS FOR PKU?
PKU patients can alleviate their symptoms and avoid problems by following a particular diet and using drugs.
Diet
The main strategy to treat PKU is to follow a particular diet that restricts phenylalanine-containing foods. Breast milk can be given to infants with PKU. They must also take a particular formula called as Lofenalac. When your kid is old enough to eat solid meals, you should avoid giving them protein-rich foods. Among these foods are:
Children with PKU must take PKU formula to ensure that they obtain a proper quantity of protein. Except for phenylalanine, it includes all of the amino acids required by the organism. There are also low-protein, PKU-friendly meals available at specialist health stores.
To treat their symptoms, people with PKU must adhere to these dietary restrictions and ingest PKU formula for the rest of their lives.
It's vital to remember that PKU meal patterns differ from person to person. People with PKU must work closely with their doctor or a nutritionist to maintain a correct nutritional balance while decreasing their phenylalanine consumption. They must also keep track of the quantity of phenylalanine in the meals they eat throughout the day in order to monitor their phenylalanine levels.
Some state legislatures have passed legislation to give insurance coverage for the meals and formulas required to treat PKU. Check with your state legislature and medical insurance provider to see whether you qualify for this coverage. If you do not have medical insurance, you can contact your local health department to see what options are available to assist you in affording PKU formula.
Medication
The Food and Drug Administration (FDA) of the United States recently authorized sapropterin (Kuvan) for the treatment of PKU. Sapropterin aids in the reduction of phenylalanine levels. This drug must be used in conjunction with a PKU food plan. It does not, however, work for everyone with PKU. It works well in children with mild symptoms of PKU.
Phenylketonuria and pregnancy
If a woman with PKU does not follow a PKU food plan during her reproductive years, she may be at risk of problems, including miscarriage. There is also the possibility that the unborn child will be exposed to excessive doses of phenylalanine. This can cause a variety of issues in the newborn, including:
- A head that is unusually tiny
These indicators aren't always obvious in a baby, but a doctor will do tests to look for signs of any medical issues your kid may have.
HOW CAN PKU BE PREVENTED?
Because PKU is a hereditary disorder, it cannot be avoided. However, for those who intend to have children, an enzyme assay can be performed. An enzyme assay is a blood test that can tell you if you have the faulty gene that causes PKU. The test can also be used to screen unborn newborns for PKU during pregnancy.
If you have PKU, you can avoid symptoms by sticking to your PKU diet plan for the rest of your life.
CONCLUSION
People with PKU have a very favorable long-term outlook if they adhere to a PKU diet plan religiously and promptly after birth. Brain injury can develop if diagnosis and therapy are delayed. This can result in intellectual problems by the first year of a child's life. Untreated PKU can eventually lead to:
- Problems with behavior and emotions
- Tremors and seizures, which are examples of neurological issues.
