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، جلد ۸، شماره ۵، صفحات ۱۸۹-۱۹۳
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| عنوان انگلیسی |
A New Mutation of Pompe Disease in a 2-Month-Old Infant |
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| چکیده انگلیسی مقاله |
Pompe disease or type 2 glycogen storage disease (GSD), is an autosomal recessive disorder, occurs by deficiency of an enzyme (acid maltase) which degrades glycogen in lysosomes. It is classified into infantile and late onset types.Identifying PD presents several challenges due to the wide range of phenotypes and phenotype overlap with other neuromuscular disorder. However, in cases of suspected Pompe disease, performing genetic testing and starting treatment immediately after proving the disease has an effective role in reducing the rate of progression of disease symptoms.With the progress made in genetic tests, sometimes new mutations are added to the existing genetic bank.So far, more than 600 mutations are known to cause many signs and symptoms, and some of these mutations are more common in certain breeds and cause more symptoms and more deaths.In this case report, we introduce a Pompe patient with a new genetic mutation that is of pathogenic types. This patient had presented with sign of severe hypotonia and cardiomegaly, increased cardiac enzymes, and abnormal liver tests. Despite enzyme therapy immediately after diagnosis, she died. |
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| کلیدواژه‌های انگلیسی مقاله |
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| نویسندگان مقاله |
| Maryam Taraz
Department of Pediatric Cardiology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
| Mojtaba Gorj
Department of Pediatric Cardiology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
| Behdad Gharib
Department of Pediatric Cardiology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
| Vahid Ziaee
Department of pediatric Rheumatology, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. and Children's Medical Center, Pediatric Center of Excellence, Tehran, Iran.
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| نشانی اینترنتی |
https://crcp.tums.ac.ir/index.php/crcp/article/view/797 |
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