儿科药学杂志2024，Vol.30Issue(1)：32-37,6.DOI:10.13407/j.cnki.jpp.1672-108X.2024.01.009
维生素B12缺乏致婴儿继发性甲基丙二酸血症临床诊治体会
Clinical Diagnosis and Treatment Experience of Secondary Methylmalonic Acidemia Induced by Vitamin B12 Deficiency in Infants
摘要
Abstract
Objective:To explore the clinical manifestations,biochemical characteristics,treatment and prognosis of secondary methylmalonic acidemia(S-MMA)induced by vitamin B12 deficiency.Methods:Clinical manifestations,laboratory examinations,therapeutic effects,maternal pregnancy and biochemical characteristics of 11 children diagnosed with secondary S-MMA induced by vitamin B12 deficiency(S-MMA group)admitted into Henan Children's Hospital from Jun.2016 to Jun.2022 were reviewed.Matching by age and gender at a 1:3 ratio,contemporaneous cases diagnosed with cblC-type MMA(C-MMA group)and 10 cases of vitamin B12 deficiency without MMA(non-MMA group)were enrolled.SPSS 20.0 was used to compare the clinical data of three groups.Results:The main clinical manifestations in three groups of children were anemia,vomiting and developmental delay.Magnetic resonance imaging(MRI)of children in both S-MMA and C-MMA groups showed delayed myelination.In the S-MMA group,the serum vitamin B12 levels increased after treatment compared with before treatment,while mean corpuscular volume(MCV),homocysteine,acrylic carnitine(C3),C3/acetylcarnitine(C3/C2)ratio,and urinary methylmalonic acid levels decreased,with statistically significant differences(P＜0.05).The prognosis for S-MMA children was generally good,with very few(9％)showing mild intellectual impairment and motor delay due to delayed diagnosis and treatment.A comparison between S-MMA group and C-MMA group regarding serum vitamin B12 levels,MCV,total homocysteine,C3,C3/C2 levels,and urinary methylmalonic acid levels before treatment showed statistically significant differences(P＜0.05).Conclusion:Vitamin B12 deficiency during pregnancy can cause S-MMA in infants,and special biochemical indicators can facilitate the early identification of S-MMA.关键词
继发性甲基丙二酸血症/钴胺素/维生素B12/缺乏/同型半胱氨酸/丙酰肉碱Key words
secondary methylmalonic acidemia/cobalamin/vitamin B12/deficiency/homocysteine/propionylcarnitine分类
医药卫生引用本文复制引用
王小红,毋盛楠,杜萌萌,卫海燕,苏畅,陈永兴..维生素B12缺乏致婴儿继发性甲基丙二酸血症临床诊治体会[J].儿科药学杂志,2024,30(1):32-37,6.基金项目
河南省医学科技攻关计划联合共建项目,编号LHGJ20210622. （）
