PHENYLKETONURIA

Course overview

PHENYLKETONURIA (PKU) IS AN INBORN ERROR OF METABOLISM (IEM) MOST OFTEN CAUSED BY MISSENSE MUTATIONS IN THE GENE ENCODING PHENYLALANINE HYDROXYLASE (PAH), WHICH CATALYZES THE HYDROXYLATION OF PHENYLALANINE (PHE) TO GENERATE TYROSINE (TYR). PKU BELONGS TO A CLASS OF AMINOACIDOPATHIES TERMED TOXIC ACCUMULATION IEMS, IN WHICH THE ACCUMULATION OF AN AMINO ACID OR ITS METABOLITE IS TOXIC. ELEVATED BLOOD PHE LEVELS AND DECREASED TYR LEVELS CHARACTERIZE PKU. NEWBORNS WITH PKU CAN APPEAR NORMAL AT BIRTH WITH THE FIRST SIGNS APPEARING AFTER SEVERAL MONTHS. THESE SIGNS CAN INCLUDE MUSTY ODOR FROM SKIN AND URINE, FAIR SKIN, ECZEMA, SEIZURES, TREMORS, AND HYPERACTIVITY. THIS ACTIVITY EXAMINES THE PRESENTATION, EVALUATION, AND MANAGEMENT OF PHENYLKETONURIA AND STRESSES THE ROLE OF AN INTERPROFESSIONAL TEAM APPROACH TO THE CARE OF AFFECTED PATIENTS.