title: [Mutation analysis of GCDH gene in four patients with glutaric academia type I].
abstract: OBJECTIVE
  To report on clinical features of four patients with glutaric academia type Ⅰ (GA-1) and mutations identified in the glutaryl-CoA dehydrogenase (GCDH) gene.
  
  
  METHODS
  All of the patients underwent magnetic resonance imaging (MRI) analysis. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry. 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.
  
  
  RESULTS
  Mutations of the GCDH gene were identified in all of the patients. Three had homozygous mutations. A recurrent mutation, IVS10-2A>C, was found in the four unrelated families, while the mutation of c.245G>C (p.Arg82Pro) was novel.
  
  
  CONCLUSIONS
  IVS10-2A>C is likely a founder mutation for Chinese population in Wenzhou.
authors: Department of Pediatrics, the Second Hospital Affiliated to Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China. cccyp@163.com.
authors: Qi
authors: Q
authors: Liu
authors: Yiping
authors: Y
authors: Chen
authors: Wei
authors: W
authors: Chen
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000235:genetics; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001928:Brain Diseases, Metabolic / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D050770:Glutaryl-CoA Dehydrogenase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D011859:Radiography; D016415:Sequence Alignment
chemical_list: D050770:Glutaryl-CoA Dehydrogenase