Serdari Aspasia E, Zompola Christina, Evangeliou Athanasios
Department of Child and Adolescent Psychiatry, Democritus University of Thrace, Medical School, University Hospital of Alexandroupolis, Alexandroupolis, Greece.
Second Department of Neurology, Attikon Hospital, University of Athens, School of Medicine, Athens, Greece.
J Pediatr Endocrinol Metab. 2020 Nov 12;34(1):127-130. doi: 10.1515/jpem-2020-0243. Print 2021 Jan 27.
Phenylalanine hydroxylase deficiency is an autosomal recessive inborn error of phenylalanine metabolism.
WHAT IS NEW?: Εven in cases with negative newborn screening for inborn errors of metabolism, the possibility of a metabolic disorder including PKU should be considered in any child presenting symptoms of developmental disorders. Late diagnosed PKU patients require a more specialized and individualized management than if they were early treatment cases.
We discuss a case of a child with typical autistic symptomatology, in whom years later a diagnosis of phenylketonuria was set, even neonatal screening was negative. Τhe patient was placed on a phenylalanine-restricted diet. After a period of clinical improvement, severe behavioral problems with aggressiveness and anxiety were presented. Less restrictive diet ameliorated the symptomatology.
This case highlights the major medical importance of adequate newborn screening policy, in order to avoid missed diagnosed cases. PKU may be presented as autism spectrum disorder. Dietary management needs individualized attentive monitoring.
苯丙氨酸羟化酶缺乏症是一种常染色体隐性遗传的苯丙氨酸代谢先天性缺陷。
即使新生儿代谢性疾病筛查结果为阴性，对于任何出现发育障碍症状的儿童，都应考虑包括苯丙酮尿症在内的代谢紊乱的可能性。与早期治疗的苯丙酮尿症患者相比，晚期诊断的患者需要更专业、个性化的管理。
我们讨论了一例具有典型自闭症症状的儿童病例，该患儿数年后被诊断为苯丙酮尿症，尽管新生儿筛查结果为阴性。该患者接受了苯丙氨酸限制饮食。经过一段时间的临床改善后，出现了伴有攻击性和焦虑的严重行为问题。限制较少的饮食改善了症状。
该病例凸显了适当的新生儿筛查政策在医学上的重要性，以避免漏诊病例。苯丙酮尿症可能表现为自闭症谱系障碍。饮食管理需要个性化的密切监测。
