Phenylketonuria Phenylalanine

the genetic disorder phenylketonuria (pku) inability metabolize phenylalanine because of lack of enzyme phenylalanine hydroxylase. individuals disorder known phenylketonurics , must regulate intake of phenylalanine. phenylketonurics use blood tests monitor amount of phenylalanine in blood. lab results may report phenylalanine levels using either mg/dl , μmol/l. 1 mg/dl of phenylalanine approximately equivalent 60 μmol/l.

a (rare) variant form of phenylketonuria called hyperphenylalaninemia caused inability synthesize cofactor called tetrahydrobiopterin, can supplemented. pregnant women hyperphenylalaninemia may show similar symptoms of disorder (high levels of phenylalanine in blood) these indicators disappear @ end of gestation. pregnant women pku must control blood phenylalanine levels if fetus heterozygous defective gene because fetus adversely affected due hepatic immaturity.

a non-food source of phenylalanine artificial sweetener aspartame. compound, sold under trade names equal , nutrasweet, metabolized body several chemical byproducts including phenylalanine. breakdown problems phenylketonurics have buildup of phenylalanine in body occurs ingestion of aspartame, although lesser degree. accordingly, products in australia, u.s. , canada contain aspartame must labeled: phenylketonurics: contains phenylalanine. in uk, foods containing aspartame must carry ingredient panels refer presence of aspartame or e951 , must labeled warning contains source of phenylalanine. in brazil, label contém fenilalanina (portuguese contains phenylalanine ) mandatory in products contain it. these warnings placed individuals avoid such foods.

geneticists have sequenced genome of macaques. investigations have found instances normal form of macaque protein looks diseased human protein including markers pku.