CPT® Code 84035

Phenylketones are organic compounds that can be detected in urine, primarily as a consequence of a genetic disorder known as phenylketonuria (PKU). This condition arises from a deficiency in the enzyme phenylalanine hydroxylase (PAH), which is crucial for the metabolism of the amino acid phenylalanine. When PAH is nonfunctional, phenylalanine accumulates in the bloodstream, leading to its conversion into phenylketones. These phenylketones are then filtered by the kidneys and excreted in the urine. The qualitative testing for phenylketones in urine is an important diagnostic tool for identifying PKU, allowing for timely intervention and management of the disorder to prevent potential neurological damage and other complications associated with elevated phenylalanine levels.