Clinical and variant analysis of 15 patients with methylmalonic acidemia
10.3760/cma.j.issn.1003-9406.2019.12.002
- VernacularTitle: 15例甲基丙二酸血症患儿的临床及基因变异分析
- Author:
Hui XIONG
1
;
Wenlin DENG
1
;
Lanying GUO
1
;
Congcong SHI
2
;
Xin XIAO
1
;
Hu HAO
1
Author Information
1. Department of Pediatrics, the Sixth Affiliated Hospital of Sun Yet-sen University, Guangzhou, Guangdong 510655, China
2. Inborn Errors of Metabotism Laboratory, the Sixth Affiliated Hospital of Sun Yet-Sen University, Guangzhou, Guangdong 510655, China
- Publication Type:Journal Article
- Keywords:
Organic acidemia;
Methylmalonic acidemia;
MUT gene;
MMACHC gene;
MMAB gene
- From:
Chinese Journal of Medical Genetics
2019;36(12):1158-1162
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report on clinical characteristics and genetic findings in 15 Chinese patients with methylmalonic acidemia (MMA).
Methods:For the 15 MMA patients detected by tandem mass spectrometry, genetic analysis was carried out in twelve pedigrees. Clinical characteristics, genetic finding, treatment and outcomes were retrospectively analyzed.
Results:The main features of the patients included poor feeding, recurrent vomiting, lethargy, seizure and development retardation. Blood propionylcarnitine (except for 3 patients), its ratio with acetylcarnitine, and urine methylmalonic acid were increased in all patients. Twelve patients were diagnosed genetically, which included 7 with MUT variants, 4 with MMACHC variants, and 1 with MMAB variant. Nine MUT variants were detected, among which c. 1159A>C, 753+ 1delGinsTGGTTATTA and c. 504del were novel. Six known pathogenic MMACHC variants and two novel MMAB variants (c.289_290delGG, c. 566G>A) were also detected. Seven patients died of metabolic crises within a year, others had improved effectively following the treatment, but had mild to severe growth delay and/or developmental retardation.
Conclusion:The clinical manifestation of MMA are complex. Most patients have variants of the MUT and MMACHC genes. High mortality may occur before one year of age.
