TY - JOUR ID - 40518 TI - A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy JO - Iranian Journal of Medical Sciences JA - IJMS LA - en SN - 0253-0716 AU - Moravej, Hossein AU - Amirhakimi, Anis AU - Showraki, Alireza AU - Amoozgar, Hamid AU - Hadipour, Zahra AU - Nikfar, Ghasem AD - Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; and Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran AD - Department of Pediatrics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran AD - School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran AD - Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran AD - Department of Medical Genetics, Sarem Cell Research Center and Hospital, Tehran, Iran AD - Department of Pediatrics, Fasa University of Medical sciences, Fasa, Iran Y1 - 2018 PY - 2018 VL - 43 IS - 2 SP - 218 EP - 222 KW - Enzyme replacement therapy KW - Glycogen storage disease type II KW - GAA protein KW - Human KW - Cardiomyopathy KW - Hypertrophy DO - 10.30476/ijms.2018.40518 N2 - 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. UR - https://ijms.sums.ac.ir/article_40518.html L1 - https://ijms.sums.ac.ir/article_40518_0ea089ce08791952f534e3214b2cb8ea.pdf ER -