title: [Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I].
abstract: OBJECTIVE
  To investigate the mutations of glutaryl-CoA dehydrogenase (GCDH) gene in patients with glutaric aciduria type I(GA-1).
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood cells of the eight probands with GA-1 who were diagnosed by urine and blood analyses. By PCR and direct sequencing, all 11 exons and their flanking sequences of the GCDH gene were examined. Mutation search was also performed in some of their family members.
  
  
  RESULTS
  Among the eight patients diagnosed by metabolic screening, seven patients belonged to classical infantile-onset. One patient, however, was adult-onset, who was admitted to the hospital because of suffering from ischemic cerebral stroke. The GCDH gene mutations were identified in all the eight probands with GA-1: five of them had compound heterozygous mutations, while the other three harbored only one heterozygous mutation. Totally, nine different mutations of the GCDH gene were identified in the eight probands, four of them were novel, i.e., c.148T>C, c.371G>A, 909delC and c.263G>A.
  
  
  CONCLUSIONS
  GCDH gene mutations are identified in 8 patients with GA-1 in mainland China, including one adult patient with late onset. Four novel mutations of GCDH gene are found which expanded the mutational spectrum of the GCDH gene.
authors.affiliation: Department of Neurology, First Hospital, Peking University, Beijing 100034, P. R. China.
authors.forename: Jing
authors.initials: J
authors.lastname: Chen
authors.forename: Zhao-xia
authors.initials: ZX
authors.lastname: Wang
authors.forename: Jin-li
authors.initials: JL
authors.lastname: Zhang
authors.forename: Yan-ling
authors.initials: YL
authors.lastname: Yang
authors.forename: Jing
authors.initials: J
authors.lastname: Chen
authors.forename: Yi-ning
authors.initials: YN
authors.lastname: Huang
mesh_terms: D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001928:Brain Diseases, Metabolic / Q000201:enzymology* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D050770:Glutaryl-CoA Dehydrogenase / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data
chemical_list: D050770:Glutaryl-CoA Dehydrogenase