Feillet F, Bonnemains C
Centre de référence des maladies héréditaires du métabolisme de Nancy, hôpital d'enfants, CHU de Brabois, 54500 Vandœuvre-les-Nancy, France.
Arch Pediatr. 2013 Oct;20(10):1165-8. doi: 10.1016/j.arcped.2013.06.021. Epub 2013 Jul 30.
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).
五十多年来，低苯丙氨酸饮食一直是苯丙酮尿症的关键治疗方法，至今已使数千名苯丙酮尿症患者得到有效治疗。然而，患者存在不依从情况，主要发生在青春期之后。2009年，一种用于苯丙酮尿症的药物在欧洲获批（盐酸沙丙蝶呤或科望（Kuvan®）），对该药物有反应的患者可从中受益。在一些国家还有其他治疗选择（糖巨肽、大中性氨基酸），或者目前正在研究中（苯丙氨酸解氨酶、分子伴侣、基因治疗）。
