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Phenylketonuria (PKU) is a genetic disorder that affects the body’s ability to process an amino acid called phenylalanine. People with PKU are unable to break down this amino acid, which can lead to a buildup of harmful substances in the body. In this post, we will delve into the genetics, causes, symptoms, diagnosis, and treatment options for PKU.

Genetics of PKU

PKU is an autosomal recessive genetic disorder, meaning that both parents must carry a defective gene for a child to be affected. The gene responsible for PKU is located on chromosome 12. When both parents pass on the defective gene, their child has a 25% chance of having PKU.

Understanding the genetics of PKU is crucial for both affected individuals and potential parents. Genetic counseling can help families understand the risk of passing on the disorder and explore options for family planning.

Causes of PKU

PKU is caused by a deficiency of an enzyme called phenylalanine hydroxylase (PAH). This enzyme is responsible for converting phenylalanine into another amino acid called tyrosine. Without a functioning PAH enzyme, phenylalanine builds up in the body, leading to various health problems.

Symptoms of PKU

The symptoms of PKU can vary from mild to severe. Newborns with PKU typically appear normal at birth, but without early detection and intervention, they may develop significant intellectual and developmental disabilities. Other symptoms may include:

• Delayed development
• Mental health issues
• Skin conditions like eczema
• Microcephaly (abnormally small head size)

Diagnosis of PKU

Prompt diagnosis of PKU is essential to ensure early intervention and management. Most countries include PKU in their newborn screening programs, which involve a simple blood test. This test measures the level of phenylalanine in the baby’s blood. If elevated levels are detected, further diagnostic tests are done to confirm PKU.

Treatment Options

Currently, there is no cure for PKU, but the condition can be managed effectively through dietary restrictions and monitoring. Individuals with PKU must follow a strict low-phenylalanine diet, which involves avoiding high-protein foods and consuming specially formulated medical foods. These medical foods provide the necessary nutrients while limiting phenylalanine intake.

Regular monitoring of phenylalanine levels is essential to ensure that the diet is effective and to prevent complications. In some cases, medications may be prescribed to help lower phenylalanine levels.

While living with PKU can be challenging, with the right support and management, individuals with this condition can lead healthy and fulfilling lives. Early diagnosis, access to proper treatment, and ongoing care are key to improving outcomes for those affected by PKU.

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