A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT
Glycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency. Glycogen-storage disease type 0A is characterized by fasting ketotic hypoglycaemia, postprandial hyperglycemia and lactic acidemia without hepatomegaly. In...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Istanbul University Press
2021-07-01
|
| Series: | İstanbul Tıp Fakültesi Dergisi |
| Subjects: | |
| Online Access: | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/6A32CE37D6D84CA08F7E773AAFD36749 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850276289960738816 |
|---|---|
| author | Meryem Karaca Halil Aslan |
| author_facet | Meryem Karaca Halil Aslan |
| author_sort | Meryem Karaca |
| collection | DOAJ |
| description | Glycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency. Glycogen-storage disease type 0A is characterized by fasting ketotic hypoglycaemia, postprandial hyperglycemia and lactic acidemia without hepatomegaly. In clinical practice, patients may be asymptomatic, or may present with hypoglycemic convulsions, short stature, growth retardation, osteopenia, and rarely symptoms of hyperglycemia. In this article, we present a 6-year-old girl with previous symptoms of hypoglycaemia, and symptoms of hyperglycemia at the time of admission and genetically diagnosed as glycogen storage disease type 0A. |
| format | Article |
| id | doaj-art-96d3f56559dd44d0921d20a406d7cd0d |
| institution | OA Journals |
| issn | 1305-6441 |
| language | English |
| publishDate | 2021-07-01 |
| publisher | Istanbul University Press |
| record_format | Article |
| series | İstanbul Tıp Fakültesi Dergisi |
| spelling | doaj-art-96d3f56559dd44d0921d20a406d7cd0d2025-08-20T01:50:21ZengIstanbul University Pressİstanbul Tıp Fakültesi Dergisi1305-64412021-07-0184345445610.26650/IUITFD.2020.0040123456A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORTMeryem Karaca0https://orcid.org/0000-0002-0662-7344Halil Aslan1https://orcid.org/0000-0001-8111-121Xİstanbul Üniversitesi, İstanbul, TürkiyeHarran Üniversitesi, Sanliurfa, TurkiyeGlycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency. Glycogen-storage disease type 0A is characterized by fasting ketotic hypoglycaemia, postprandial hyperglycemia and lactic acidemia without hepatomegaly. In clinical practice, patients may be asymptomatic, or may present with hypoglycemic convulsions, short stature, growth retardation, osteopenia, and rarely symptoms of hyperglycemia. In this article, we present a 6-year-old girl with previous symptoms of hypoglycaemia, and symptoms of hyperglycemia at the time of admission and genetically diagnosed as glycogen storage disease type 0A.https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/6A32CE37D6D84CA08F7E773AAFD36749glycogen storage disease type 0aketotic hypoglycaemiahyperglycaemialactic acidemia |
| spellingShingle | Meryem Karaca Halil Aslan A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT İstanbul Tıp Fakültesi Dergisi glycogen storage disease type 0a ketotic hypoglycaemia hyperglycaemia lactic acidemia |
| title | A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT |
| title_full | A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT |
| title_fullStr | A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT |
| title_full_unstemmed | A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT |
| title_short | A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT |
| title_sort | rare cause of both hypo and hyperglycemia glycogen storage disease type 0 a case report |
| topic | glycogen storage disease type 0a ketotic hypoglycaemia hyperglycaemia lactic acidemia |
| url | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/6A32CE37D6D84CA08F7E773AAFD36749 |
| work_keys_str_mv | AT meryemkaraca ararecauseofbothhypoandhyperglycemiaglycogenstoragediseasetype0acasereport AT halilaslan ararecauseofbothhypoandhyperglycemiaglycogenstoragediseasetype0acasereport AT meryemkaraca rarecauseofbothhypoandhyperglycemiaglycogenstoragediseasetype0acasereport AT halilaslan rarecauseofbothhypoandhyperglycemiaglycogenstoragediseasetype0acasereport |