About Maternal phenylketonuria

What is Maternal phenylketonuria?

Maternal phenylketonuria (PKU) is an inherited disorder that affects the metabolism of the amino acid phenylalanine. It is caused by a mutation in the gene that codes for the enzyme phenylalanine hydroxylase, which is responsible for breaking down phenylalanine. When this enzyme is not functioning properly, phenylalanine builds up in the body and can cause serious health problems. Symptoms of PKU include intellectual disability, seizures, behavioral problems, and other neurological issues. Treatment for PKU involves a strict diet that limits the intake of phenylalanine.

What are the symptoms of Maternal phenylketonuria?

Symptoms of maternal phenylketonuria (PKU) can include:

• High levels of phenylalanine in the blood
• Mental retardation
• Seizures
• Developmental delays
• Behavioral problems
• Poor coordination
• Hyperactivity
• Abnormal movements
• Poor muscle tone
• Eczema
• Light sensitivity
• Abnormal facial features
• Abnormal body odor
• Abnormal sleep patterns
• Poor appetite
• Poor weight gain

What are the causes of Maternal phenylketonuria?

Maternal 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 a variety of health problems.

What are the treatments for Maternal phenylketonuria?

1. Dietary management: A strict, low-phenylalanine diet is the mainstay of treatment for maternal phenylketonuria. This diet should be tailored to the individual and monitored by a dietitian.

2. Medication: Some women with maternal phenylketonuria may benefit from taking a medication called sapropterin dihydrochloride (Kuvan). This medication helps the body use phenylalanine more efficiently.

3. Genetic counseling: Women with maternal phenylketonuria should receive genetic counseling to discuss the risks of passing the condition on to their children.

4. Regular monitoring: Women with maternal phenylketonuria should have regular blood tests to monitor their phenylalanine levels.

What are the risk factors for Maternal phenylketonuria?

1. Family history of PKU
2. Previous child with PKU
3. Low socioeconomic status
4. Poor nutrition
5. Lack of access to prenatal care
6. Maternal age over 35
7. Maternal obesity
8. Maternal diabetes
9. Maternal smoking
10. Maternal alcohol consumption

Is there a cure/medications for Maternal phenylketonuria?

Yes, there is a cure for Maternal Phenylketonuria (PKU). The most common treatment is a low-phenylalanine diet, which is a diet that is low in the amino acid phenylalanine. This diet helps to reduce the amount of phenylalanine in the body and can help to prevent the development of mental and physical disabilities. In addition, medications such as sapropterin dihydrochloride (Kuvan) can be used to help reduce the amount of phenylalanine in the body.