PHENYLKETONEURIA, SYMPTOMS, DIAGNOSTIC TESTS, PHARMACOGENOMICS, TREATMENTS, MEDICATIONS
DEFINITION : “ Phenylketonuria (PKU) is an inborn error of metabolism involving impaired metabolism of phenylalanine , one of the amino acids . Phenylketonuria is caused by absent or virtually absent phenylalanine hydroxylase (PAH) enzyme activity . ” EXPLAINATION : · Protein-rich foods or the sweetener aspartame can act as poisons for people with phenylketonuria. · The role of PAH is to break down excess phenylalanine from food. · Phenylalanine is a necessary part of the human diet and is naturally present in all kinds of dietary protein. · It is also used to make aspartame , known by the trade name Nutrasweet , which is used to sweeten low-calorie and sugar free soft drinks, yogurts, and desserts. ...