title: Glycogen storage disease type Ia: molecular study in Brazilian patients.
abstract: Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSDIa). This disease is characterized by growth retardation, hepatomegaly, hypoglycemia, hyperlipidemia, and lactic acidosis. In this study, we report mutations in the G6Pase gene in 8 of 25 Brazilian patients with clinical symptoms of GSDIa. Five previously described mutations (R83C, Q347X, V338F, D38V, and G68R) were detected. The two most common mutations identified were R83C and Q347X, accounting for 8 of 14 (57.14%) mutant alleles. A 1,176 single-nucleotide polymorphism and two intronic mutations (IVS3-58T>A and IVS4+10G>A) were also analyzed. We used the minigene strategy in order to verify the effect of these intronic mutations on the splicing mechanism. This study emphasizes that molecular genetic analysis is a reliable and convenient alternative to the assay of enzyme activity in a fresh liver biopsy specimen for diagnosing GSDIa.
authors: CBMEG, State University of Campanias, SP, Brazil.
authors: F
authors: F
authors: de C Reis
authors: H C
authors: HC
authors: Caldas
authors: D Y
authors: DY
authors: Norato
authors: I V
authors: IV
authors: Schwartz
authors: R
authors: R
authors: Giugliani
authors: M G
authors: MG
authors: Burin
authors: E L
authors: EL
authors: Sartorato
mesh_terms: D000483:Alleles; D001483:Base Sequence; D001938:Brazil; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005787:Gene Frequency; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D007438:Introns; D009154:Mutation; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide
chemical_list: D017931:DNA Primers; D005952:Glucose-6-Phosphatase