Onuki Takanori, Hiroshima Shota, Sawano Kentaro, Shibata Nao, Ogawa Yohei, Nagasaki Keisuke, Nyuzuki Hiromi
Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences, Niigata 951-8510, Japan.
Children (Basel). 2023 Aug 3;10(8):1341. doi: 10.3390/children10081341.
There are reports of mothers being diagnosed with inborn errors of metabolism (IEM) via positive newborn screening (NBS) of their newborns. Mothers with IEM are often considered to have mild cases of little pathological significance. Based in Niigata Prefecture, this study aimed to investigate mothers newly diagnosed with IEM via positive NBS in their newborns using tandem mass spectrometry, and to clarify the disease frequency and severity.
This was a single-institution, population-based, retrospective study. The subjects were mothers whose newborns had false-positive NBS, among 80,410 newborns who underwent NBS between April 2016 and May 2021.
there were 3 new mothers were diagnosed with IEM (2 with primary systemic carnitine deficiency (PCD) and 1 with 3-methylcrotonyl-CoA carboxylase deficiency) out of 5 who underwent examination among 18 false positives. The opportunity for diagnosis was low C0 and high C5-OH acylcarnitine levels in their newborn. Two novel variants (c.1063T > C/c.1266A > G) were identified in patients with PCD. None of the patients had any complications at the time of diagnosis, but two patients showed improvement in fatigue and headache after taking oral carnitine.
New mothers with IEM cannot be considered as mild cases and need to be treated when necessary. The two novel variants further expand the variant spectrum of PCD.
有报道称，母亲通过对其新生儿进行新生儿筛查（NBS）呈阳性而被诊断为先天性代谢缺陷（IEM）。患有IEM的母亲通常被认为病情较轻，病理意义不大。本研究以新潟县为基础，旨在调查通过串联质谱法对新生儿进行NBS呈阳性而新诊断为IEM的母亲，并阐明疾病的发生率和严重程度。
这是一项基于单一机构、以人群为基础的回顾性研究。研究对象是在2016年4月至2021年5月期间接受NBS的80410名新生儿中，其新生儿NBS呈假阳性的母亲。
在18例假阳性中接受检查的5名母亲中，有3名新诊断为IEM（2名患有原发性系统性肉碱缺乏症（PCD），1名患有3-甲基巴豆酰辅酶A羧化酶缺乏症）。诊断机会较低，其新生儿的C0和C5-OH酰基肉碱水平较高。在PCD患者中鉴定出两个新的变异体（c.1063T>C/c.1266A>G）。所有患者在诊断时均无任何并发症，但两名患者在口服肉碱后疲劳和头痛症状有所改善。
患有IEM的新妈妈不能被视为轻症病例，必要时需要接受治疗。这两个新的变异体进一步扩大了PCD的变异谱。
