About Classic phenylketonuria

What is Classic phenylketonuria?

Classic phenylketonuria (PKU) is an inherited disorder that affects the way the body processes the essential amino acid phenylalanine. People with PKU are unable to break down phenylalanine, which can build up in the body and cause serious health problems. Symptoms of PKU include intellectual disability, seizures, behavioral problems, and mental health issues. Treatment for PKU involves a strict diet that limits the amount of phenylalanine in the body.

What are the symptoms of Classic phenylketonuria?

The symptoms of classic phenylketonuria (PKU) include:

- Developmental delays
- Intellectual disability
- Seizures
- Hyperactivity
- Behavioral problems
- Musty body odor
- Eczema
- Light skin and hair color
- Poor growth
- High levels of phenylalanine in the blood

What are the causes of Classic phenylketonuria?

Classic phenylketonuria (PKU) is caused by a mutation in the gene that codes for the enzyme phenylalanine hydroxylase (PAH). This enzyme is responsible for converting the amino acid phenylalanine into tyrosine. When the enzyme is not functioning properly, phenylalanine accumulates in the body and can cause a variety of health problems.

What are the treatments for Classic phenylketonuria?

The primary treatment for classic phenylketonuria (PKU) is a strict, lifelong diet that is low in phenylalanine (Phe). This diet should be tailored to the individual and monitored by a dietitian. Other treatments may include supplementation with vitamins and minerals, as well as medications to help reduce Phe levels. In some cases, enzyme replacement therapy may be recommended.

What are the risk factors for Classic phenylketonuria?

1. Family history of PKU
2. Maternal PKU
3. Maternal hyperphenylalaninemia
4. Maternal use of certain medications during pregnancy
5. Low birth weight
6. Premature birth
7. Exposure to certain environmental toxins
8. Exposure to certain drugs or chemicals during pregnancy

Is there a cure/medications for Classic phenylketonuria?

Yes, there is a cure for classic phenylketonuria (PKU). The primary treatment for PKU is a special diet that is low in phenylalanine, an amino acid found in many foods. This diet must be followed for life. In addition, medications such as sapropterin dihydrochloride (Kuvan) may be prescribed to help the body break down phenylalanine.