Phenylketonuria IIs (PKU II) refers to a rare genetic disorder that affects the metabolism of the amino acid phenylalanine. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.
PKU II is caused by a deficiency or dysfunction of the enzyme dihydropteridine reductase (DHPR), which is essential for the breakdown of phenylalanine. In individuals with PKU II, the accumulation of phenylalanine and its byproducts in the body can lead to a variety of symptoms and complications, including intellectual disability, seizures, behavioral problems, psychiatric issues, and skin disorders.
The diagnosis of PKU II is typically made through clinical evaluation, blood tests to measure phenylalanine levels in the body, and genetic testing to confirm the presence of mutations in the DHPR gene. Early detection and treatment are crucial to prevent or minimize the development of symptoms and complications.
The mainstay of management for PKU II involves a strict diet low in phenylalanine, which includes avoiding foods that are high in protein and taking a synthetic formula that provides essential nutrients while restricting phenylalanine intake. Regular monitoring of blood phenylalanine levels is necessary to ensure adequate control and adjust the treatment plan accordingly.
With appropriate management and early intervention, individuals with PKU II can lead relatively healthy lives and prevent or reduce the risk of complications associated with the disorder.
