Bayat Allan, Møller Libeth Birk, Lund Allan Meldgaard
Klinisk Genetisk Klinik, Rigshospitalet, Blegdamsvej 9, 2100 København.
Ugeskr Laeger. 2015 Feb 16;177(8).
Primary phenylalanine hydroxylase deficiency, also known as phenylketonuria, results in accumulation of phenylalanine in the blood. Early identification and treatment prevents the majority of clinical sequelae to the disease, but psychological and neurodevelopmental problems can occur in some patients. This article reviews the symptoms, diagnosis, classification and strategies of treatment and management of phenylketonuria. Finally we review new pharmacological and non-pharmaco-logical means of treatment.
原发性苯丙氨酸羟化酶缺乏症，也称为苯丙酮尿症，会导致血液中苯丙氨酸的积累。早期识别和治疗可预防该疾病的大多数临床后遗症，但一些患者可能会出现心理和神经发育问题。本文综述了苯丙酮尿症的症状、诊断、分类以及治疗和管理策略。最后，我们回顾了新的药物和非药物治疗方法。
