LinkedIn

 آمار

تعداد نشریات20
تعداد شماره‌ها1,095
تعداد مقالات10,039
تعداد مشاهده مقاله27,955,624
تعداد دریافت فایل اصل مقاله7,782,074
Moravej, Hossein, Amirhakimi, Anis, Showraki, Alireza, Amoozgar, Hamid, Hadipour, Zahra, Nikfar, Ghasem. (1396). A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy. سامانه مدیریت نشریات علمی, 43(2), 218-222. doi: 10.30476/ijms.2018.40518
Hossein Moravej; Anis Amirhakimi; Alireza Showraki; Hamid Amoozgar; Zahra Hadipour; Ghasem Nikfar. "A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy". سامانه مدیریت نشریات علمی, 43, 2, 1396, 218-222. doi: 10.30476/ijms.2018.40518
Moravej, Hossein, Amirhakimi, Anis, Showraki, Alireza, Amoozgar, Hamid, Hadipour, Zahra, Nikfar, Ghasem. (1396). 'A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy', سامانه مدیریت نشریات علمی, 43(2), pp. 218-222. doi: 10.30476/ijms.2018.40518
Moravej, Hossein, Amirhakimi, Anis, Showraki, Alireza, Amoozgar, Hamid, Hadipour, Zahra, Nikfar, Ghasem. A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy. سامانه مدیریت نشریات علمی, 1396; 43(2): 218-222. doi: 10.30476/ijms.2018.40518

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy

Iranian Journal of Medical Sciences
مقاله 13، دوره 43، شماره 2، خرداد 2018، صفحه 218-222    اصل مقاله (339.92 K)
نوع مقاله: Case Report(s)
شناسه دیجیتال (DOI): 10.30476/ijms.2018.40518
نویسندگان
Hossein Moravej* 1؛ Anis Amirhakimi2؛ Alireza Showraki3؛ Hamid Amoozgar4؛ Zahra Hadipour5؛ Ghasem Nikfar6
1Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; and Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
2Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
3School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
4Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
5Department of Medical Genetics, Sarem Cell Research Center and Hospital, Tehran, Iran
6Department of Pediatrics, Fasa University of Medical sciences, Fasa, Iran
چکیده
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypotonia. Mutations in the acid alpha-glucosidase (GAA) gene, located at locus 17q25.3, are responsible for the disease leading to reduced activity of the acid alpha-glucosidase enzyme. To date, approximately 400 pathogenic mutations have been reported in the GAA gene. The aim of this study is to report a novel nonsense mutation in exon 4 of the GAA gene in an Iranian child suffering from IOPD. The patient was a female neonate with hypertrophic cardiomyopathy and a positive family history of IOPD. After definite diagnosis, enzyme-replacement therapy (ERT) was started for the patient, who was 2 months old. Now at the age of 20 months, she has had good growth and development and her echocardiographic parameters are within the normal range. This report shows that IOPD patients with this mutation can be treated with ERT successfully.
کلیدواژه‌ها
Enzyme replacement therapy؛ Glycogen storage disease type II؛ GAA protein؛ Human؛ Cardiomyopathy؛ Hypertrophy
آمار
تعداد مشاهده مقاله: 1,975
تعداد دریافت فایل اصل مقاله: 876


سامانه مدیریت نشریات علمی. قدرت گرفته از سیناوب