What genetic condition is characterized by an increase in phenylalanine levels in the body?

Phenylketonuria, commonly referred to as PKU, is a genetic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is crucial for the metabolism of phenylalanine, an amino acid found in many protein-containing foods. In individuals with PKU, the inability to properly metabolize phenylalanine leads to its accumulation in the body. High levels of phenylalanine can cause serious health issues, including intellectual disabilities and other neurological problems if not managed through diet and treatment.

The connection between PKU and elevated phenylalanine levels underscores the importance of early detection and management, usually involving a strict diet low in phenylalanine. This condition exemplifies how a single enzymatic deficiency can have significant physiological ramifications and is a classic example of an autosomal recessive disorder.