pku disorder symptoms Phenylketonuria pku causes retardation

Phenylketonuria (PKU) is a rare genetic disorder that affects the way the body breaks down an amino acid called phenylalanine. This condition is caused by a mutation in the gene responsible for producing an enzyme called phenylalanine hydroxylase (PAH). Without this enzyme, phenylalanine builds up to toxic levels in the blood and can cause serious health problems.

Genetics of PKU

PKU is an autosomal recessive disorder, meaning that both copies of the PAH gene must be mutated for a person to develop the condition. If both parents are carriers of the mutated gene, there is a 25% chance that their child will inherit PKU.

The mutated PAH gene results in a deficiency of the phenylalanine hydroxylase enzyme, which is responsible for converting phenylalanine into another amino acid called tyrosine. Without this conversion, phenylalanine accumulates in the blood, leading to a range of symptoms.

Symptoms and Diagnosis

PKU symptoms can vary in severity and may include intellectual disability, developmental delays, seizures, behavioral problems, and a musty odor in the breath, skin, and urine. If left untreated, PKU can lead to severe brain damage.

PKU is typically diagnosed shortly after birth through newborn screening programs. These screenings involve collecting a small blood sample from the baby’s heel and testing it for various genetic disorders, including PKU. Early diagnosis is crucial, as starting treatment early can prevent the development of serious complications.

Treatment

The main treatment for PKU involves following a strict low-phenylalanine diet. This means avoiding foods that are high in protein, such as meat, fish, eggs, and dairy products. Instead, individuals with PKU need to consume a special formula that provides the necessary nutrients while minimizing phenylalanine intake. Regular monitoring and adjustments to the diet are necessary to ensure proper growth and development.

In some cases, medication may be prescribed to help lower phenylalanine levels in the blood. These medications work by blocking the absorption of phenylalanine or helping the body excrete it more effectively.

With early diagnosis and strict adherence to the treatment plan, individuals with PKU can lead relatively normal lives. Regular medical supervision and ongoing support from healthcare professionals, dietitians, and psychologists are crucial for managing the condition effectively.

PKU is a complex genetic disorder that requires lifelong management. Through early diagnosis, appropriate treatment, and ongoing support, individuals with PKU can achieve optimal health outcomes and lead fulfilling lives.

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