Volume 15, Issue 2, April 2016, Pages 406–411
Ayoub AGLAGUEL1, François PETIT2, Naima EL HAFIDI3, Asmaa ESSOUIBA4, Norddine HABTI5, Ahmed Aziz BOUSFIHA6, Fatima AILAL7, and Houria ABDELGHAFFAR8
1 Laboratoire Biochimie, Environnement & Agroalimentaire, URAC 36 (LBEA), Faculté des Sciences et Techniques de Mohammedia, Université Hassan II de Casablanca, Casablanca, Maroc
2 Laboratoire de génétique moléculaire, Service d'histologie-embryologie-cytogénétique, Hôpital Antoine Béclère, GH Paris-Sud, AP-HP, France
3 Hôpital d’Enfants, CHU Ibn Sina, Rabat, Maroc
4 Unité d’Immunologie Clinique, Département de Pédiatrie, CHU Ibn Rochd, Université Hassan II de Casablanca, Casablanca, Maroc
5 Laboratoire d’Hématologie, de Génie Génétique et Cellulaire, Faculté de Médecine et de Pharmacie de Casablanca, Université Hassan II de Casablanca, Casablanca, Morocco
6 Unité d’Immunologie Clinique, Département de Pédiatrie, CHU Ibn Rochd, Université Hassan II de Casablanca, Casablanca, Maroc
7 Unité d’Immunologie Clinique, Département de Pédiatrie, CHU Ibn Rochd, Université Hassan II de Casablanca, Casablanca, Maroc
8 Laboratoire Biochimie, Environnement & Agroalimentaire, URAC 36 (LBEA), Faculté des Sciences et Techniques de Mohammedia, Université Hassan II de Casablanca, Casablanca, Maroc
Original language: English
Copyright © 2016 ISSR Journals. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Purpose: Glycogen storage disease type 1b (GSD1b) is a rare autosomal recessive metabolic defect of glycogenolysis and gluconeogenesis which results from a deficiency of the glucose-6-phosphate translocase. GSD 1b is characterized by chubby face, hypoglycemia, hyperlipidemia, hyperuricemia, hepatomegaly, nephromegaly and growth retardation. GSD1b patients also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections and inflammatory intestinal diseases. From 2010 to 2014, 3 cases of GSD1b were diagnosed in Morocco. The purpose of this paper is to report the clinical and genetic characteristics of those GSD1b patients. Methods: We investigated the genetic, immunological and clinical features of 3 Moroccan patients with GSD1b from 3 unrelated kindreds. Results: All patients experience chubby face, hepatomegaly, hypoglycemia, hypercholesterolemia / hypertriglyceridemia / hyperuricemia and failure to thrive. All cases suffered from recurrent bacterial and/or fungal infections due to neutropenia. The sequencing of SLC37A4 gene showed the same mutation c.1042_1043delCT in the homozygous state. In the absence of treatment with recombinant human granulocyte colony-stimulating factor (G-CSF), the evolution was marked by the death of two cases in an infectious context despite symptomatic and preventive treatment. Conclusion: Further studies on a large cohort are required to determine the incidence and prevalence of the disease, and to improve the description of the genetic and clinical features of GSD1b patients in Morocco.
Author Keywords: Glycogen storage disease type 1b, glucose-6-phosphate translocase, sequencing, SLC37A4, mutation.
Ayoub AGLAGUEL1, François PETIT2, Naima EL HAFIDI3, Asmaa ESSOUIBA4, Norddine HABTI5, Ahmed Aziz BOUSFIHA6, Fatima AILAL7, and Houria ABDELGHAFFAR8
1 Laboratoire Biochimie, Environnement & Agroalimentaire, URAC 36 (LBEA), Faculté des Sciences et Techniques de Mohammedia, Université Hassan II de Casablanca, Casablanca, Maroc
2 Laboratoire de génétique moléculaire, Service d'histologie-embryologie-cytogénétique, Hôpital Antoine Béclère, GH Paris-Sud, AP-HP, France
3 Hôpital d’Enfants, CHU Ibn Sina, Rabat, Maroc
4 Unité d’Immunologie Clinique, Département de Pédiatrie, CHU Ibn Rochd, Université Hassan II de Casablanca, Casablanca, Maroc
5 Laboratoire d’Hématologie, de Génie Génétique et Cellulaire, Faculté de Médecine et de Pharmacie de Casablanca, Université Hassan II de Casablanca, Casablanca, Morocco
6 Unité d’Immunologie Clinique, Département de Pédiatrie, CHU Ibn Rochd, Université Hassan II de Casablanca, Casablanca, Maroc
7 Unité d’Immunologie Clinique, Département de Pédiatrie, CHU Ibn Rochd, Université Hassan II de Casablanca, Casablanca, Maroc
8 Laboratoire Biochimie, Environnement & Agroalimentaire, URAC 36 (LBEA), Faculté des Sciences et Techniques de Mohammedia, Université Hassan II de Casablanca, Casablanca, Maroc
Original language: English
Copyright © 2016 ISSR Journals. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Purpose: Glycogen storage disease type 1b (GSD1b) is a rare autosomal recessive metabolic defect of glycogenolysis and gluconeogenesis which results from a deficiency of the glucose-6-phosphate translocase. GSD 1b is characterized by chubby face, hypoglycemia, hyperlipidemia, hyperuricemia, hepatomegaly, nephromegaly and growth retardation. GSD1b patients also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections and inflammatory intestinal diseases. From 2010 to 2014, 3 cases of GSD1b were diagnosed in Morocco. The purpose of this paper is to report the clinical and genetic characteristics of those GSD1b patients. Methods: We investigated the genetic, immunological and clinical features of 3 Moroccan patients with GSD1b from 3 unrelated kindreds. Results: All patients experience chubby face, hepatomegaly, hypoglycemia, hypercholesterolemia / hypertriglyceridemia / hyperuricemia and failure to thrive. All cases suffered from recurrent bacterial and/or fungal infections due to neutropenia. The sequencing of SLC37A4 gene showed the same mutation c.1042_1043delCT in the homozygous state. In the absence of treatment with recombinant human granulocyte colony-stimulating factor (G-CSF), the evolution was marked by the death of two cases in an infectious context despite symptomatic and preventive treatment. Conclusion: Further studies on a large cohort are required to determine the incidence and prevalence of the disease, and to improve the description of the genetic and clinical features of GSD1b patients in Morocco.
Author Keywords: Glycogen storage disease type 1b, glucose-6-phosphate translocase, sequencing, SLC37A4, mutation.
How to Cite this Article
Ayoub AGLAGUEL, François PETIT, Naima EL HAFIDI, Asmaa ESSOUIBA, Norddine HABTI, Ahmed Aziz BOUSFIHA, Fatima AILAL, and Houria ABDELGHAFFAR, “First 3 cases of glycogen storage disease type 1b diagnosed in Morocco: genetic and clinical features,” International Journal of Innovation and Applied Studies, vol. 15, no. 2, pp. 406–411, April 2016.
