Two cases of Fabry disease identified in brothers
Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the ?#7015;alactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were di...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Korean Pediatric Society
2010-02-01
|
| Series: | Korean Journal of Pediatrics |
| Online Access: | http://www.kjp.or.kr/upload/2010530219-20100343101843.PDF |
| _version_ | 1811266611965853696 |
|---|---|
| author | Ji Eun Cho Yong Hee Hong Yang Gyun Lee Han Wook Yoo Dong Hwan Lee |
| author_facet | Ji Eun Cho Yong Hee Hong Yang Gyun Lee Han Wook Yoo Dong Hwan Lee |
| author_sort | Ji Eun Cho |
| collection | DOAJ |
| description | Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the ?#7015;alactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation. |
| first_indexed | 2024-04-12T20:45:20Z |
| format | Article |
| id | doaj.art-c6bf8e82876b4f31b5506cf8f553cc79 |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-04-12T20:45:20Z |
| publishDate | 2010-02-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-c6bf8e82876b4f31b5506cf8f553cc792022-12-22T03:17:17ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582010-02-0153223523810.3345/kjp.2010.53.2.235Two cases of Fabry disease identified in brothersJi Eun ChoYong Hee HongYang Gyun LeeHan Wook YooDong Hwan LeeFabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the ?#7015;alactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene mutation.http://www.kjp.or.kr/upload/2010530219-20100343101843.PDF |
| spellingShingle | Ji Eun Cho Yong Hee Hong Yang Gyun Lee Han Wook Yoo Dong Hwan Lee Two cases of Fabry disease identified in brothers Korean Journal of Pediatrics |
| title | Two cases of Fabry disease identified in brothers |
| title_full | Two cases of Fabry disease identified in brothers |
| title_fullStr | Two cases of Fabry disease identified in brothers |
| title_full_unstemmed | Two cases of Fabry disease identified in brothers |
| title_short | Two cases of Fabry disease identified in brothers |
| title_sort | two cases of fabry disease identified in brothers |
| url | http://www.kjp.or.kr/upload/2010530219-20100343101843.PDF |
| work_keys_str_mv | AT jieuncho twocasesoffabrydiseaseidentifiedinbrothers AT yongheehong twocasesoffabrydiseaseidentifiedinbrothers AT yanggyunlee twocasesoffabrydiseaseidentifiedinbrothers AT hanwookyoo twocasesoffabrydiseaseidentifiedinbrothers AT donghwanlee twocasesoffabrydiseaseidentifiedinbrothers |