Frankel Reva, Verscaj Courtney, Tise Christina G, Cusmano-Ozog Kristina
Stanford University, CA, USA.
J Investig Med High Impact Case Rep. 2025 Jan-Dec;13:23247096251339303. doi: 10.1177/23247096251339303. Epub 2025 May 21.
There has been a multivitamin infusion (MVI) shortage for the last decade, generating increasing concerns for the neonatal population. This study evaluated a cohort of 4 total parenteral nutrition (TPN)-dependent neonates who presented within a 6-month period with abnormal biochemistry in a complex and unusual pattern. All exhibited findings were suggestive of multiple inherited metabolic disorders (IMD), particularly multiple acyl-CoA dehydrogenase deficiency and maple syrup urine disease. Given the rarity of having 2 IMDs, communication with the primary team was initiated and revealed inadequate MVI in the administered TPN. All biochemical abnormalities could be explained by thiamine (B1), riboflavin (B2), pyridoxine (B6), and/or biotin (B7) deficiency. MVI-deficient TPN as the single unifying etiology is further supported by normal newborn screening (NBS) and resolution of biochemical abnormalities with MVI administration in all neonates. Awareness of this problem is critical to avoid unnecessary testing and initiate prompt treatment with vitamins.
在过去十年中一直存在多种维生素输注（MVI）短缺的情况，这引起了对新生儿群体越来越多的关注。本研究评估了一组共4名依赖全胃肠外营养（TPN）的新生儿，他们在6个月内出现了复杂且不寻常模式的生化异常。所有表现出的症状都提示存在多种遗传性代谢疾病（IMD），特别是多种酰基辅酶A脱氢酶缺乏症和枫糖尿症。鉴于同时患有两种IMD的情况罕见，于是与主要医疗团队进行了沟通，结果发现所给予的TPN中MVI不足。所有生化异常都可以用硫胺素（B1）、核黄素（B2）、吡哆醇（B6）和/或生物素（B7）缺乏来解释。所有新生儿的正常新生儿筛查（NBS）以及给予MVI后生化异常得到缓解，进一步支持了MVI缺乏的TPN作为单一统一病因的观点。认识到这个问题对于避免不必要的检查并及时开始维生素治疗至关重要。
