Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
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DOI：
10.1186/s13023-019-1045-1
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发表时间：
2019-04-02
影响因子：
3.7
通讯作者：
Niu, Dau-Ming
中科院分区：
文献类型：
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作者：
Chu, Tzu-Hung;Chien, Yin-Hsiu;Niu, Dau-Ming
背景大多数新生儿期出现的单纯甲基丙二酸血症（MMA）/丙酸血症（PA）患者存在急性代谢窘迫，有死亡和严重神经发育障碍的危险。自2000年1月起，台湾地区开始进行新生儿MMA/PA筛查，数据收集至2016年12月。结果在研究期间，共筛查新生儿3，155，263例。MMA甲钴胺型病例的总发病率为1/121，356（n=26），检出1例钴胺素B，PA病例（n=4）的总发病率为1/788，816。MMA患者转诊时间为8.8天，PA患者为7.5天。MMA型患者的AST、ALT和NH_3值较高，pH值较低（p
BackgroundMost patients with isolated methylmalonic acidemia (MMA) /propionic acidemia (PA) presenting during the neonatal period with acute metabolic distress are at risk for death and significant neurodevelopmental disability. The nationwide newborn screening for MMA/PA has been in place in Taiwan from January, 2000 and data was collected until December, 2016.ResultsDuring the study period, 3,155,263 newborns were screened. The overall incidence of MMA mutase type cases was 1/121,356 (n=26), 1 cobalamin B was detected and that for PA cases (n=4) was 1/788,816. The time of referral is 8.8days for MMA patients, and 7.5days for PA patients. The MMA mutase type patients have higher AST, ALT, and NH3 values as well as a lower pH value (p