| Title: |
Fabry disease: a case report |
| Authors: |
Alam, Afroja; Sharleen, Nadia; Prianka, Nusrat Jahan; Rahman, Muhammad Raquib; Yesmin, Mahbuba; Asaduzzaman, ATM; Azad, Md Abul Kalam |
| Source: |
BIRDEM Medical Journal; Vol. 11 No. 2 (2021); 145-147 ; 2305-3720 ; 2305-3712 |
| Publisher Information: |
Bangladesh Institute of Research & Rehabilitation of Diabetes, Endocrine and Metabolism |
| Publication Year: |
2021 |
| Collection: |
Bangladesh Journals Online (BanglaJOL) |
| Subject Terms: |
Fabry disease; angiokeratomacorporis diffusum; a-galactosidase A activity |
| Time: |
Bangladesh |
| Description: |
Fabry disease is a rare X-linked recessive inborn error of metabolism due to deficient activity of the lysosomal enzyme, a-galactosidase A (a-Gal A). This results in the tissue accumulation of uncleaved glycosphingolipids within vascular endothelial lysosomes of various organs including skin, heart, kidneys and brain. We report a case of Fabry disease, in an 18-year-old boy, who presented with unilateral leg swelling and angiokeratoma corporis diffusum. Birdem Med J 2021; 11(2): 145-147 |
| Document Type: |
article in journal/newspaper |
| File Description: |
application/pdf |
| Language: |
English |
| Relation: |
https://banglajol.info/index.php/BIRDEM/article/view/53138/37499; https://banglajol.info/index.php/BIRDEM/article/view/53138 |
| Availability: |
https://banglajol.info/index.php/BIRDEM/article/view/53138 |
| Rights: |
Copyright (c) 2021 BIRDEM Medical Journal |
| Accession Number: |
edsbas.B6719EBC |
| Database: |
BASE |