title: Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.
abstract: Glycogen storage disease type Ia (GSD Ia; OMIM 232200) is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the microsomal glucose-6-phosphatase (G6Pase). It is characterized by short stature, hepatomegaly, hypoglycaemia, hyperuricaemia, and lactic acidaemia. Various mutations have been reported in the G6Pase gene (G6PC). In order to determine the mutation spectrum in Tunisia, we performed mutation analysis in 22 Tunisian type I glycogen storage disease (GSD I) patients belonging to 18 unrelated families. All patients were clinically classified as GSD Ia. The R83C mutation was found to be the major cause of GSD Ia, accounting for 24 of 36 mutant alleles (66.6%), The R170Q mutation was the second most frequent mutation; it accounts for 10 of 36 mutant alleles (27.7%). The R83C and R170Q mutations could be rapidly detected by PCR/RFLP. Since the majority of Tunisian patients carried R83C and/or R170Q mutations, we propose direct screening of these mutations as a rapid, valuable and noninvasive tool for diagnosis of GSD Ia in Tunisian as well as in Northern African populations.
authors.affiliation: Inherited Metabolic Diseases Unit, Pediatric Department, La Rabta Hospital, Tunis, Tunisia.
authors.forename: E
authors.initials: E
authors.lastname: Barkaoui
authors.forename: W
authors.initials: W
authors.lastname: Cherif
authors.forename: N
authors.initials: N
authors.lastname: Tebib
authors.forename: C
authors.initials: C
authors.lastname: Charfeddine
authors.forename: F
authors.initials: F
authors.lastname: Ben Rhouma
authors.forename: H
authors.initials: H
authors.lastname: Azzouz
authors.forename: A
authors.initials: A
authors.lastname: Ben Chehida
authors.forename: K
authors.initials: K
authors.lastname: Monastiri
authors.forename: J
authors.initials: J
authors.lastname: Chemli
authors.forename: F
authors.initials: F
authors.lastname: Amri
authors.forename: H
authors.initials: H
authors.lastname: Ben Turkia
authors.forename: M S
authors.initials: MS
authors.lastname: Abdelmoula
authors.forename: N
authors.initials: N
authors.lastname: Kaabachi
authors.forename: S
authors.initials: S
authors.lastname: Abdelhak
authors.forename: M F
authors.initials: MF
authors.lastname: Ben Dridi
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis / Q000379:methods*; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D014416:Tunisia
chemical_list: D005952:Glucose-6-Phosphatase