Service interruption on Monday 11 July from 12:30 to 13:00: all the sites of the CCSD (HAL, EpiSciences, SciencesConf, AureHAL) will be inaccessible (network hardware connection).
Skip to Main content Skip to Navigation
Journal articles

Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.

Abstract : The glycogen storage disease type Ia (GSD Ia) is a rare inherited disorder, with autosomal recessive determinism. It is characterized by hepatomegaly, short stature and hypoglycemia with lactic acidemia. The confirmation of diagnosis is based on the enzymatic assay performed on liver biopsy. For Tunisians patients, this biochemical test is performed abroad. The aim of our study is the molecular characterization of GSD Ia in Tunisian patients and the development of a molecular diagnosis tool. Our study included 27 patients from 23 unrelated families, mutation analysis revealed that the R83C mutation is the most frequent (65%, 30/46 mutant alleles), followed by the R170Q mutation (30%, 14/46 mutant alleles). The homogeneity of mutation spectrum of GSD Ia in Tunisia allows the development of a cost effective and reliable tool for the confirmation of clinical diagnosis among suspected GSD Ia patients.
Document type :
Journal articles
Complete list of metadata
Contributor : Institut Pasteur Tunis Connect in order to contact the contributor
Submitted on : Tuesday, September 24, 2013 - 5:21:26 PM
Last modification on : Friday, October 23, 2020 - 4:50:03 PM




W. Cherif, F Ben Rhouma, a Ben Chehida, H. Azzouz, K. Monastiri, et al.. Homogénéité mutationnelle de la glycogénose de type Ia en Tunisie.. Pathologie Biologie, Elsevier Masson, 2011, 59 (4), pp.e93-6. ⟨10.1016/j.patbio.2009.05.004⟩. ⟨pasteur-00865649⟩



Record views