About Phenylketonuria

Is there a cure/medications for Phenylketonuria?

Yes, there is a cure for 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 better process phenylalanine.

What are the risk factors for Phenylketonuria?

1. Family history of Phenylketonuria (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

What are the treatments for Phenylketonuria?

The primary treatment for Phenylketonuria (PKU) is a strict, lifelong diet that is low in the amino acid phenylalanine. This diet should be started as soon as possible after diagnosis and should be tailored to the individual's needs. Other treatments may include supplementation with vitamins and minerals, as well as medications to help control blood phenylalanine levels. In some cases, enzyme replacement therapy may be recommended.

What are the causes of Phenylketonuria?

Phenylketonuria (PKU) is caused by a genetic mutation in the PAH gene, which is responsible for producing the enzyme phenylalanine hydroxylase. This enzyme is responsible for breaking down the amino acid phenylalanine, which is found in many foods. When the enzyme is not present, phenylalanine builds up in the body, leading to a variety of health problems.

What are the symptoms of Phenylketonuria?

The most common symptoms of Phenylketonuria (PKU) include:

- Developmental delays
- Intellectual disability
- Seizures
- Behavioral problems
- Hyperactivity
- Musty body odor
- Eczema
- Light skin and hair color
- Poor growth
- Vomiting
- Weak muscle tone
- Unusual facial features

What is Phenylketonuria?

Phenylketonuria (PKU) is an inherited disorder that affects the way the body breaks down an amino acid called phenylalanine. People with PKU have a genetic mutation that prevents their body from making an enzyme called phenylalanine hydroxylase, which is needed to break down phenylalanine. As a result, phenylalanine builds up in the body, leading to serious health problems.