Analysis of 12 cases with methylmalonicacidemia cblA type
10.3760/cma.j.issn.1003-9406.2020.02.001
- VernacularTitle:甲基丙二酸血症cblA型12例分析
- Author:
Huishu E
1
;
Lianshu HAN
;
Jun YE
;
Wenjuan QIU
;
Huiwen ZHANG
;
Lili LIANG
;
Yu WANG
;
Jianguo WANG
;
Wenjun JI
;
Ting CHEN
;
Feng XU
;
Xuefan GU
Author Information
1. 上海交通大学医学院附属新华医院
- Keywords:
Methylmalonic acidemia;
MMAA gene;
Propionylcarnitine;
Methylmalonic acid
- From:
Chinese Journal of Medical Genetics
2020;37(2):101-105
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the clinical feature,genetic variant and clinical outcome of patients with cblA-type methylmalonic acidemia (MMA).Methods Clinical manifestations,therapeutic schedule and prognosis of 12 patients with cblA-type MMA were analyzed.MMAA gene variants were analyzed for all patients and their parents.Results Vomiting,dyspnea and drowsiness were the major clinical features of cblA-type MMA.Eleven patients were vitamin B12-responsive.After treatment,the blood level of propionylcarnitine,ratio of propionylcarnitine/acetylcarnitine,urine level of methylmalonic acid and methylcitric acid have decreased significantly (P＜0.05).Follow-up study showed that 8 patients (66.7％)had normal development,while the rest (33.3％) remained to have various level of mental or movement delay.Fourteen MMAA gene variants were detected,with c.365T＞C (p.L122P) being the most common (29.2％).Six novel variants,including c.54delA (p.A19Hfs * 43),c.275G＞A (p.G92V),c.456delT (p.G153Vfs* 8),c.667dupA (p.T223Nfs* 4),c.1114C＞T (p.Q372X) and c.1137_1138delCA (p.F379Lfs * 27) were found.Conclusion The main clinical manifestations of patients with cblA-type of MMA include vomiting,dyspnea and drowsiness.Most patients are vitamin B12-responsive.c.365T＞C is a potential hot spot variant of MMAA gene in China.
