[Phenylketonuria: new treatments]

Abstract

Low phenylalanine diet has been the key treatment of phenylketonuria for more than 50years, allowing efficient management of thousands of PKU patients to date. However, non-compliance exists, mainly after adolescence. A medication for PKU received approval in Europe in 2009 (sapropterine dihydrochloride or Kuvan(®)) and can benefit to patients responsive to this drug. Other treatment options are available in some countries (glycomacropeptides, large neutral amino acids) or are currently under investigation (phenylalanine ammonia lyase, chaperones molecules, gene therapy).