Fenoksyenuria

Fenoksyenuria is a rare congenital disorder characterized by the inability to degrade phenylalanine, an essential amino acid found in many protein-rich foods. The condition is caused by a deficiency in the enzyme phenylalanine hydroxylase, which is necessary for the breakdown of phenylalanine into tyrosine.

Phenylalanine is a non-essential amino acid, meaning it can be synthesized by the human body from the essential amino acid tyrosine. However, individuals with phenylketonuria (PKU) or related disorders like fenoksyenuria are unable to convert phenylalanine into tyrosine. As a result, phenylalanine accumulates in the body, leading to a range of health problems.

Symptoms of fenoksyenuria can manifest at any age and include developmental delays, intellectual disability, seizures, and dermatological issues such as eczema and skin lesions. If left untreated, the disorder can lead to more severe complications, including heart problems and cancer. Diagnosis typically involves a blood test to measure phenylalanine levels, followed by genetic testing to identify the underlying mutation.

Fenoksyenuria is caused by a mutation in the PAH gene, which codes for the phenylalanine hydroxylase enzyme. This mutation is inherited in an autosomal recessive pattern, meaning an individual must inherit one mutated copy of the gene from each parent to develop the condition. Treatment for fenoksyenuria typically involves a strict dietary regimen to limit phenylalanine intake, as well as regular monitoring of amino acid levels. Early diagnosis and management are critical in preventing long-term complications and optimizing quality of life.