About Mild phenylketonuria

What is Mild phenylketonuria?

Mild phenylketonuria (PKU) is an inherited disorder that affects the way the body processes the essential amino acid phenylalanine. People with mild PKU have a milder form of the disorder, which means that their bodies are able to process phenylalanine more efficiently than those with classic PKU. People with mild PKU may not need to follow a strict phenylalanine-restricted diet, but they may still need to monitor their phenylalanine intake and take supplements to ensure they get enough of the essential amino acid.

What are the symptoms of Mild phenylketonuria?

The symptoms of mild phenylketonuria (PKU) vary from person to person, but can include:

- Developmental delays

- Intellectual disability

- Behavioral problems

- Seizures

- Hyperactivity

- Poor coordination

- Eczema

- Musty body odor

- Light skin and hair color

- High levels of phenylalanine in the blood

What are the causes of Mild phenylketonuria?

Mild 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 functioning properly, phenylalanine builds up in the body, leading to mild PKU.

What are the treatments for Mild phenylketonuria?

The primary treatment for mild phenylketonuria (PKU) is a strict diet that is low in phenylalanine (Phe). This diet should be started as soon as possible after diagnosis and should be continued throughout life. The diet should be tailored to the individual and monitored by a dietitian.

Other treatments for mild PKU may include supplementation with vitamins and minerals, as well as medications to help control blood Phe levels. In some cases, enzyme replacement therapy may be recommended.

What are the risk factors for Mild phenylketonuria?

1. Genetic inheritance: Mild phenylketonuria is caused by a genetic mutation in the PAH gene, which is passed down from parents to their children.

2. Ethnicity: Mild phenylketonuria is more common in people of Northern European descent.

3. Diet: Eating a diet high in phenylalanine can increase the risk of developing mild phenylketonuria.

4. Exposure to toxins: Exposure to certain toxins, such as lead, can increase the risk of developing mild phenylketonuria.

Is there a cure/medications for Mild phenylketonuria?

Yes, there is a cure for mild phenylketonuria (PKU). Treatment involves a strict diet that is low in phenylalanine, a type of 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.