Clinical phenotype and novel mutation in one of twins with glutaric acidemia type I.
10.3760/cma.j.issn.1003-9406.2019.06.018
- VernacularTitle:戊二酸血症Ⅰ型的异卵双胞胎的临床表型及新基因变异
- Author:
Ying WANG
1
;
Shujun FU
2
;
Yuqi YANG
1
;
Huaiyan WANG
1
;
Yuping ZHANG
2
;
Hong ZHOU
1
;
Bin YU
1
Author Information
1. Changzhou Maternal and Child Health Care Hospital, Changzhou, Jiangsu 213003, China. Email: ybcz0519@163.com.
2. Tianning District Maternal and Child Health Care and Family Planning Service Center, Changzhou, Jiangsu 213000, China.
- Publication Type:Journal Article
- MeSH:
Amino Acid Metabolism, Inborn Errors;
genetics;
Brain Diseases, Metabolic;
genetics;
Female;
Glutaryl-CoA Dehydrogenase;
deficiency;
genetics;
Humans;
Male;
Mutation;
Phenotype
- From:
Chinese Journal of Medical Genetics
2019;36(6):602-605
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To review the clinical features of a male twin affected with glutaric academia type I (GA-I) and analyze the variations of glutaryl-CoA dehydrogenase (GCDH) gene.
METHODS:Clinical data of the pair of twins and their parents were collected. Genomic DNA was extracted from peripheral blood samples, and variants of GCDH genes were detected by capture sequencing using a customized panel. Variants of the twins and their parents were verified by Sanger sequencing.
RESULTS:The level of glutaric acyl carnitine (C5DC + C6OH) was 3.26 μmol/L in the male twin. The relative level of glutaric acid in urine was 547.51 by gas chromatography mass spectrometry analysis. Cerebral ultrasonography showed that the patient had subependymal hemorrhage, but no serious clinical manifestation was noted. After treating with special formula milk powder and L-carnitine, the boy showed good growth and development. Two heterozygous variants of the GCDH gene were detected in the patient, among which c.416C>G was suspected to be pathogenic, while c.109_110delCA was unreported. The variants were respectively inherited from his parents. The twin girl only carried the c.416C>G variant.
CONCLUSION:GA-I can be diagnosed by mass spectrometry, urine gas chromatographic mass spectrometry, imaging as well as genetic diagnosis. Early diagnosis and intervention is important.
