A New Mutation of Pompe Disease in a 2-Month-Old Infant

Message:
Article Type:
Case Report (دارای رتبه معتبر)
Abstract:

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.

Language:
English
Published:
Case Reports in Clinical Practice, Volume:8 Issue: 5, Sep-Oct 2023
Pages:
189 to 193
magiran.com/p2718054  
دانلود و مطالعه متن این مقاله با یکی از روشهای زیر امکان پذیر است:
اشتراک شخصی
با عضویت و پرداخت آنلاین حق اشتراک یک‌ساله به مبلغ 1,390,000ريال می‌توانید 70 عنوان مطلب دانلود کنید!
اشتراک سازمانی
به کتابخانه دانشگاه یا محل کار خود پیشنهاد کنید تا اشتراک سازمانی این پایگاه را برای دسترسی نامحدود همه کاربران به متن مطالب تهیه نمایند!
توجه!
  • حق عضویت دریافتی صرف حمایت از نشریات عضو و نگهداری، تکمیل و توسعه مگیران می‌شود.
  • پرداخت حق اشتراک و دانلود مقالات اجازه بازنشر آن در سایر رسانه‌های چاپی و دیجیتال را به کاربر نمی‌دهد.
In order to view content subscription is required

Personal subscription
Subscribe magiran.com for 70 € euros via PayPal and download 70 articles during a year.
Organization subscription
Please contact us to subscribe your university or library for unlimited access!