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Paper Information

Journal:   IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS)   MARCH 2018 , Volume 43 , Number 2; Page(s) 218 To 222.
 
Paper: 

A NEW MUTATION CAUSING SEVERE INFANTILE-ONSET POMPE DISEASE RESPONSIVE TO ENZYME REPLACEMENT THERAPY (CASE REPORT)

 
 
Author(s):  MORAVEJ HOSSEIN*, AMIRHAKIMI ANIS, SHOWRAKI ALIREZA, AMOOZGAR HAMID, HADIPOUR ZAHRA, NIKFAR GHASEM
 
* NEONATAL RESEARCH CENTER, SHIRAZ UNIVERSITY OF MEDICAL SCIENCES, SHIRAZ, IRAN
 
Abstract: 

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 theacid 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 theGAA gene. The aim of this study is to report a novel nonsense mutation in exon 4 ofthe 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.

 
Keyword(s): ENZYME REPLACEMENT THERAPY, GLYCOGEN STORAGE DISEASE TYPE II, GAA PROTEIN, HUMAN, CARDIOMYOPATHY, HYPERTROPHY
 
 
References: 
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Click to Cite.
APA: Copy

MORAVEJ, H., & AMIRHAKIMI, A., & SHOWRAKI, A., & AMOOZGAR, H., & HADIPOUR, Z., & NIKFAR, G. (2018). A NEW MUTATION CAUSING SEVERE INFANTILE-ONSET POMPE DISEASE RESPONSIVE TO ENZYME REPLACEMENT THERAPY (CASE REPORT). IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS), 43(2), 218-222. https://www.sid.ir/en/journal/ViewPaper.aspx?id=570675



Vancouver: Copy

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 (CASE REPORT). IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS). 2018 [cited 2021May13];43(2):218-222. Available from: https://www.sid.ir/en/journal/ViewPaper.aspx?id=570675



IEEE: Copy

MORAVEJ, H., AMIRHAKIMI, A., SHOWRAKI, A., AMOOZGAR, H., HADIPOUR, Z., NIKFAR, G., 2018. A NEW MUTATION CAUSING SEVERE INFANTILE-ONSET POMPE DISEASE RESPONSIVE TO ENZYME REPLACEMENT THERAPY (CASE REPORT). IRANIAN JOURNAL OF MEDICAL SCIENCES (IJMS), [online] 43(2), pp.218-222. Available: https://www.sid.ir/en/journal/ViewPaper.aspx?id=570675.



 
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