Division of Pediatric Metabolism, Diyarbakir Childrens' Hospital, Diyarbakır, Turkey.
Division of Medical Genetics, Diyarbakir Gazi Yaşargil Training and Research Hospital, Diyarbakır, Turkey.
Turk J Pediatr. 2022;64(4):741-746. doi: 10.24953/turkjped.2021.4915.
Monocarboxylate transporter 1 (MCT1) deficiency (MIM #616095) is a relatively new identified cause of recurrent ketoacidosis triggered by fasting or infections. MCT1 was first described in 2014 by van Hasselt et al. to result from both homozygous and heterozygous mutations in the SLC16A1 gene. Patients with homozygous mutations are known to have a more severe phenotype with developmental delay and epilepsy. Thirteen patients with MCT1 deficiency with ketoacidosis have been reported in the literature to date.
We describe a developmentally normal male patient with heterozygous missense variation in the SLC16A1 gene. Our patient who presented with cyclic vomiting and ketoacidosis episodes was found to have a heterozygous c.303T > G (p.Ile101Met) missense mutation.
It is crucial to take early preventive measures and to minimize the harmful effects of ketoacidotic episodes. MCT1 deficiency should be considered in the differential diagnosis of ketoacidosis in patients with normal SCOT and ACAT1 activities.
单羧酸转运蛋白 1（MCT1）缺乏症（MIM #616095）是一种相对较新发现的病因，可由禁食或感染引发反复酮症酸中毒。MCT1 于 2014 年由 van Hasselt 等人首次描述，其病因是 SLC16A1 基因突变导致纯合子和杂合子。已知纯合子突变的患者表现出更严重的表型，包括发育迟缓伴癫痫。迄今为止，文献中已报道了 13 例 MCT1 缺乏症伴酮症酸中毒患者。
我们描述了一名发育正常的男性患者，其 SLC16A1 基因存在杂合错义变异。我们的患者表现为周期性呕吐伴酮症酸中毒，发现存在杂合 c.303T > G（p.Ile101Met）错义突变。
早期采取预防措施并尽量减少酮症酸中毒发作的有害影响至关重要。在 SCOT 和 ACAT1 活性正常的酮症酸中毒患者的鉴别诊断中，应考虑 MCT1 缺乏症。
