Phenylketonuria also known as hyperphenylalaninemia is a rare genetic disease that is manifested by the accumulation of amino acid called phenylalanine in the body. Amino acids are the building blocks of proteins, and phenylalanine is found in all kinds of proteins and some artificial sweeteners.
Phenylketonuria is caused by a defect in a gene that helps the formation of phenylalanine hydroxylase. Early diagnosis and treatment will help relieve symptoms and prevent brain damage in newborns.
The symptoms of phenylketonuria
Symptoms can range from mild to very severe. Most severe form of the disease is known as classic PKU. Infant affected, may not show any symptoms in the first months of life, but the disease is characterized by the appearance of symptoms such as:
- stunted growth,
- skin diseases
- the musty smell of breath, skin or urine.
Lack of proper diagnosis at birth and late treatment may cause:
- irreversible brain damage and intellectual disability,
- behavioral problems and convulsions in older children.
The causes of phenylketonuria
Phenylketonuria is a hereditary disease that causes a defect in the gene PAH. Dangerous accumulation of phenylalanine can occur when a sick person eats foods rich in protein, such as eggs or meat. To the disease appeared in a child, it is necessary that both parents had a faulty version of the gene. However, if only one parent has the defective gene, the child may not show any symptoms of the disease, but also is a carrier of the gene.
Diagnosis and treatment of phenylketonuria
Most frequently diagnosis relies on routine neonatal screening, which allows by blood samples, determine whether the child is not suffering from phenylketonuria or other genetic disorder. When the symptoms appear in older child – mostly in the form of developmental delays, the doctor recommends the additional blood tests to confirm the diagnosis.
Treatment can help alleviate symptoms and prevent complications. The most commonly used is a special diet and medication.
Diet person suffering from phenylketonuria, restricts foods containing phenylalanine. Infants can not be breastfed, and only get an exceptional food. Older children and adults who suffer from the disease must, in turn, avoid foods such as:
It is necessary to replace them with protein sources, which do not contain the amino acid phenylalanine.
Pregnant women who suffer from phenylketonuria must be especially careful because the unborn child can be exposed to high levels of phenylalanine, which may lead to some birth defects as the mental retardation, delayed development, heart defects, low weight at birth, abnormally small head.
Phenylketonuria is a genetic disease, so it can not be prevented. You can only alleviate the symptoms, but the most important are the early detection, which will prevent irreversible changes.