Phenylketonuria (PKU): A metabolic disorder that can cause intellectual disability.

What is the Phenylketonuria (PKU) ?

Phenylketonuria (PKU) is a genetic disorder that affects the way the body breaks down a protein called phenylalanine. In people with PKU, the body cannot properly metabolize phenylalanine, which can build up in the blood and cause brain damage.

What are the symptom of Phenylketonuria (PKU)?

If PKU is not diagnosed and treated early, it can lead to:

• Intellectual disability
• Seizures
• Behavioral problems
• Skin disorders
• Musty odor in the urine

Who can suffer from Phenylketonuria (PKU)?

PKU is an inherited disorder. People of all races and ethnicities can be affected.

What are the type of Phenylketonuria (PKU)  ?

There are different types of PKU, including:

• Classic PKU: This is the most common type, and it is characterized by a complete or partial deficiency of the enzyme phenylalanine hydroxylase (PAH), which breaks down phenylalanine.
• Variant PKU: This is a less severe form of PKU, and it is caused by mutations in genes other than the PAH gene.

Which diagnostic are available for the Phenylketonuria (PKU)  ?

·  Blood test: A blood test can measure the level of phenylalanine in the blood.

·  Genetic testing: This can confirm the presence of the PKU gene mutation.

What are the treatment of the Phenylketonuria (PKU)  ?

The primary treatment for PKU is a phenylalanine-restricted diet. This diet involves limiting the intake of foods that contain phenylalanine, such as meat, fish, eggs, dairy products, and legumes.

Which diet should I take ,if any ?

A specialized dietitian can help create a personalized diet plan for people with PKU. The diet will need to be carefully monitored throughout life.

Which speciality of the doctor will Phenylketonuria (PKU)?

A pediatrician or genetic counselor can diagnose and manage PKU.

In Phenylketonuria (PKU) completely curable ?

There is currently no cure for PKU. However, with early diagnosis and strict adherence to a phenylalanine-restricted diet, individuals with PKU can lead normal, healthy lives.