Divisions of Developmental Pediatrics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Divisions of Pediatric Metabolism, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2021;63(5):767-779. doi: 10.24953/turkjped.2021.05.005.
There is increased awareness regarding the co-occurrence of autism spectrum disorder (ASD) and inherited metabolic disorders (IMD), and this is crucial for the management of both diagnoses in clinical practice. We aimed firstly to report twenty-two patients with a dual diagnosis of IMD and ASD who are still being followed up in the child metabolism outpatient clinic; secondly to evaluate the time of both IMD and ASD diagnosis and the clinical progress of their metabolic disorders to underline treatable conditions.
Among the patients admitted to the Pediatric Metabolism outpatient clinic because of IMD, twentytwo of them who had a diagnosis of ASD were included in the study. Data of the patients were collected from their medical records. The most recent progress of the patients concerning their metabolic disorder was obtained from the patients` files.
Six cases with Phenylketonuria, 2 cases with partial Biotinidase Deficiency, 3 cases with Cerebral Creatine Deficiency Syndrome (CCDS), 5 cases with Mucopolysaccharidosis (MPS) Type-3b, 2 cases with MPS Type-3a, 1 case with MPS Type 4, 2 cases with Hypervalinemia and 1 case with Maple Syrup Urine Disease were all diagnosed as also having ASD. The diagnoses of CCDS and MPS Type 3 were after the diagnosis of ASD. Phenylketonuria and Mucopolysaccharidosis were the most common diagnoses in our study. In addition, rare entities such as MPS Type 3b and Type 4 and Hypervalinemia were also reported to co-occur with autism.
Considering the co-occurrence of both disorders and implementing intervention strategies accordingly will certainly be beneficial in clinical practice and particularly in countries with a high rate of consanguinity.
自闭症谱系障碍（ASD）和遗传性代谢紊乱（IMD）的共病现象日益受到关注，这对于临床实践中这两种疾病的管理至关重要。我们的目的首先是报告 22 例 IMD 和 ASD 双重诊断的患者，这些患者仍在儿童代谢门诊接受随访；其次是评估 IMD 和 ASD 的诊断时间以及代谢紊乱的临床进展，以强调可治疗的疾病。
在因 IMD 而被收入儿科代谢门诊的患者中，纳入了 22 例被诊断为 ASD 的患者。从他们的病历中收集患者的数据。从患者的档案中获取患者代谢紊乱的最新进展。
6 例苯丙酮尿症，2 例部分生物素酶缺乏症，3 例脑肌酸缺乏综合征（CCDS），5 例黏多糖贮积症（MPS）3b 型，2 例 MPS 3a 型，1 例 MPS 4 型，2 例高缬氨酸血症和 1 例枫糖尿症均被诊断为同时患有 ASD。CCDS 和 MPS 3 的诊断是在 ASD 诊断之后。苯丙酮尿症和黏多糖贮积症是我们研究中最常见的诊断。此外，还报告了罕见实体如 MPS 3b 型和 4 型以及高缬氨酸血症与自闭症共病。
考虑到这两种疾病的共病现象，并相应地实施干预策略，在临床实践中，特别是在高近亲结婚率的国家，肯定是有益的。
