Which classification of gene disorders does Phenylketonuria fall under?

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Phenylketonuria (PKU) is classified as a single gene disorder, which is caused by mutations in a specific gene responsible for encoding the enzyme phenylalanine hydroxylase. This enzyme is critical for the metabolism of phenylalanine, an amino acid found in many protein-containing foods. In individuals with PKU, the deficient enzyme leads to a buildup of phenylalanine, which can result in serious neurological consequences if left untreated.

Single gene disorders are characterized by changes in one specific gene that leads to the manifestation of the disease. These disorders follow predictable patterns of inheritance, such as autosomal recessive, autosomal dominant, or X-linked inheritance. PKU is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to exhibit the symptoms of the disease.

Understanding the molecular basis of PKU and its inheritance pattern emphasizes the significance of genetic testing and dietary management in preventing the severe complications associated with the disorder. Early diagnosis and intervention, often through screening programs, can dramatically improve the quality of life for individuals with PKU.

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