Mazlum Betül, Anlar Banu, Kalkanoğlu-Sivri H Serap, Karlı-Oğuz Kader, Özusta Şeniz, Ünal Fatih
Department of Neuroscience, İstanbul University, Experimental Medicine Research Institute, İstanbul, Turkey.
Divisions of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2016;58(3):318-322. doi: 10.24953/turkjped.2016.03.016.
Phenylketonuria is one of the most prevalent autosomal recessive hereditary disorders in Turkey. If untreated, it results in severe brain damage and can also be associated with autism in certain patients. We present a three-year old boy who exhibited the symptoms of autism and was subsequently diagnosed with phenylketonuria. This case illustrates that because the majority of autism cases are idiopathic, an occasional patient with a metabolic disorder might be overlooked especially in the era of newborn screening. We also discuss the possible pathogenetic processes leading to autistic symptoms in phenylketonuria, and wish to draw attention to the possibility of cases missed in the screening program because of less than 100% coverage or insufficient food intake before blood sampling. Clinicians should keep in mind the possibility of treatable disorders in children with autism even when such disorders appear unlikely.
苯丙酮尿症是土耳其最常见的常染色体隐性遗传性疾病之一。若不进行治疗，会导致严重的脑损伤，在某些患者中还可能与自闭症有关。我们报告了一名3岁男孩，他表现出自闭症症状，随后被诊断为苯丙酮尿症。该病例表明，由于大多数自闭症病例是特发性的，在新生儿筛查时代，偶尔会有代谢紊乱的患者被忽视。我们还讨论了苯丙酮尿症中导致自闭症症状的可能发病机制，并希望引起人们对筛查项目中因覆盖率不足100%或采血前食物摄入量不足而漏诊病例可能性的关注。临床医生应牢记，即使在患有自闭症的儿童中这些疾病似乎不太可能存在，也有可治疗疾病的可能性。
