mention the cause and effect of phenylketonuria
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What is phenylketonuria?
Phenylketonuria (PKU) is a rare genetic condition that causes an amino acid called phenylalanine to build up in the body. Amino acids are the building blocks of protein. Phenylalanine is found in all proteins and some artificial sweeteners.
Phenylalanine hydroxylase is an enzyme your body uses to convert phenylalanine into tyrosine, which your body needs to create neurotransmitters such as epinephrine, norepinephrine, and dopamine. PKU is caused by a defect in the gene that helps create phenylalanine hydroxylase. When this enzyme is missing, your body can’t break down phenylalanine. This causes a buildup of phenylalanine in your body.
Babies in the United States are screened for PKU shortly after birth. The condition is uncommon in this country, only affecting about 1 in 10,000 to 15,000 newborns each year. The severe signs and symptoms of PKU are rare in the United States, as early screening allows treatment to begin soon after birth. Early diagnosis and treatment can help relieve symptoms of PKU and prevent brain damage.
Symptoms of phenylketonuria
PKU symptoms can range from mild to severe. The most severe form of this disorder is known as classic PKU. An infant with classic PKU may appear normal for the first few months of their life. If the baby isn’t treated for PKU during this time, they’ll start to develop the following symptoms:
- seizures
- tremors, or trembling and shaking
- stunted growth
- hyperactivity
- skin conditions such as eczema
a musty odor of their breath, skin, or urine
If PKU isn’t diagnosed at birth and treatment isn’t started quickly, the disorder can cause:
- irreversible brain damage and intellectual disabilities within the first few months of life
- behavioral problems and seizures in older children
A less severe form of PKU is called variant PKU or non-PKU hyperphenylalaninemia. This occurs when the baby has too much phenylalanine in their body. Infants with this form of the disorder may have only mild symptoms, but they’ll need to follow a special diet to prevent intellectual disabilities.
Once a specific diet and other necessary treatments are started, symptoms start to diminish. People with PKU who properly manage their diet usually don’t show any symptoms.
Causes of phenylketonuria
PKU is an inherited condition caused by a defect in the PAH gene. The PAH gene helps create phenylalanine hydroxylase, the enzyme responsible for breaking down phenylalanine. A dangerous buildup of phenylalanine can occur when someone eats high-protein foods, such as eggs and meat.
Both parents must pass on a defective version of the PAH gene for their child to inherit the disorder. If just one parent passes on an altered gene, the child won’t have any symptoms, but they’ll be a carrier of the gene.
How it’s diagnosed
Since the 1960s, hospitals in the United States have routinely screened newborns for PKU by taking a blood sample. A doctor uses a needle or lancet to take a few drops of blood from your baby’s heel to test for PKU and other genetic disorders.
The screening test is performed when the baby is one to two days old and still in the hospital. If you don’t deliver your baby in a hospital, you’ll need to schedule the screening test with your doctor.
Additional tests may be performed to confirm the initial results. These tests search for the presence of the PAH gene mutation that causes PKU. These tests are often done within six weeks after birth.
If a child or adult shows symptoms of PKU, such as developmental delays, the doctor will order a blood test to confirm the diagnosis. This test involves taking a sample of blood and analyzing it for the presence of the enzyme needed to break down phenylalanine.
Treatment options
People with PKU can relieve their symptoms and prevent complications by following a special diet and by taking medications.