Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I.
- Author:
Xiaorong SHI
1
;
Zhongling KE
;
Aidong ZHENG
;
Wenhuang XIE
;
Guiling MO
Author Information
- Publication Type:Case Reports
- MeSH: Adolescent; Amino Acid Metabolism, Inborn Errors; diagnostic imaging; enzymology; genetics; Base Sequence; Brain Diseases, Metabolic; diagnostic imaging; enzymology; genetics; China; DNA Mutational Analysis; Family Health; Female; Genetic Predisposition to Disease; genetics; Glutaryl-CoA Dehydrogenase; deficiency; genetics; Homozygote; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Mutation; Radiography
- From: Chinese Journal of Medical Genetics 2014;31(5):608-611
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo review the clinical features of a families affected with glutaric acidemia type I (GA-1) and screen potential mutations in glutaryl-CoA dehydrogenase (GCDH) gene.
METHODSClinical data of the patients and their family members was analyzed. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.
RESULTSTwo patients have manifested macrocephaly. Imaging analysis revealed arachnoid cyst and subdural effusion. The elder sister had encephalopathy crisis. The younger sister had significantly raised glutaric acid, whilst the elder sister was normal during the non-acute phase. Genetic analysis has revealed a homozygous c.1244-2A> C mutation of the GCDH gene in both patients.
CONCLUSIONThe clinical features and mutation of the GCDH gene have been delineated in a Chinese family affected with GA-1. The c.1244-2A> C mutation may be particularly common in the Chinese population.
