Phenylketonuria (PKU) is one of the genetic disorders.
This disorder is mainly referred to as the inability of your body to consume the vital amino acids and phenylalanine (Phe).
Amino acids are essential for building body proteins. Your body will get the amino acids from the food you consume.
Phenylketonuria is the condition which affects one out of 12,000-15,000 live births in the US. This disorder can affect you inheriting two copies of the mutated gene, one from each parent.
In Phenylketonuria, the enzyme, phenylalanine hydroxylase (PAH), that breaks down is completely deficient. Normally this enzyme is used to convert phenylalanine into another amino acid and tyrosine. The deficiency of this can cause high levels of phenylalanine.
The high levels of Phe can damage the brain and it results in severe mental retardation, behavior abnormalities, inability to focus and organize information, seizures and some other neurological disorders.
The deficiency of this enzyme can cause phenylalanine and its breakdown chemicals from other enzyme get accumulated in the body tissues and blood. This disorder can affect both males and females equally.
Sapropterin Dihydrochloride for treatment of Phenylketonuria:
Sapropterin dihydrochloride is the first drug approved to slow down the effects of a rare genetic disorder that is the main cause of mental retardation, delayed speech, smaller brain size and other neurological problems.
This new drug therapy gives hope for families and patients dealing with this difficult disease. This drug works by increasing the activity of PAH enzyme in patients with Phenylketonuria. This again results in an increased breakdown of Phe which causes the lower levels of Phe in your blood.
You must use the drug in combination with a phenylalanine-restricted diet. There is a chance to get affected with the side effects of the drug if you don’t follow the phenylalanine-restricted diet. Phenylalanine is basically found in the foods which contain proteins like dairy, meats and egg products.
The most common adverse effects associated with this drug include: throat pain, diarrhea, upper respiratory tract infection, headache and abdominal pain.
The best treatment for Phenylketonuria is to follow a diet low in protein foods. For newborns, there are special formula considerations. For adults and older children, their diet must include plenty of fruits and vegetables. The diet can also include: cereals, low-protein breads and pastas.
So, by following the diet, you can control the effects of Phenylketonuria for some extent. You should stay on the diet as long as possible.