THE ORIGIN OF PHENYLKETUNURIA AND METHODS OF ITS TREATMENT
Abstract
Phenylketonuria (PKU), hereditary inability of the body to metabolize the amino acid phenylalanine. Phenylalanine is normally converted in the human body to tyrosine, another amino acid, by a specific organic catalyst, or enzyme, called phenylalanine hydroxylase. This enzyme is not active in individuals who have phenylketonuria. As a result of this metabolic block, abnormally high levels of phenylalanine accumulate in the blood, cerebrospinal fluid, and urine. Abnormal products of phenylalanine breakdown, such as highly reactive ketone compounds, can also be detected in the urine.
Keywords
Blood, phenylketonuriya, biochemistry,skin.
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