Guide To Metabolic Disorders

Phenylketonuria

Phenylketonuria is an uncommon genetic condition that causes the accumulation of the amino acid referred to as phenylalanine in an individual's body. The production of essential neurotransmitters in the body, including norepinephrine, dopamine, and epinephrine, requires a compound called tyrosine. The enzyme phenylalanine hydroxylase is needed for the conversion of phenylalanine to tyrosine, and phenylketonuria patients do not produce an effective version of phenylalanine hydroxylase. The buildup of phenylalanine causes symptoms like seizures, stunted growth, eczema, musty body and body fluid odor, tremors, hyperactivity, intellectual disabilities, irreversible brain damage, and behavioral problems. Phenylketonuria is diagnosed through a blood test performed on newborns when they are a few days old. The test involves using a lancet to draw blood from the heel of the baby to test for the mutations that cause phenylketonuria and other genetic diseases. Treatment involves going on a special diet that eliminates foods with phenylalanine in them and taking medications to lower levels of phenylalanine in the body.