The variable clinical phenotype of liver glycogen synthase deficiency
(2007) In Journal of Pediatric Endocrinology & Metabolism 20(12). p.1339-1342- Abstract
- We report two new cases of liver glycogen synthase deficiency (GSD0). The first patient presented at the age of 8 months with recurrent hypoglycemic seizures. The second patient presented at 14 months with asymptomatic incidental hyperglycemia. Glucose monitoring in both patients revealed daily fluctuations from fasting hypoglycemia to postprandial hyperglycemia. Genetic analysis of the GYS2 gene confirmed the diagnosis. GSDO is more common than previously assumed. Recognition of the variable phenotype spectrum of GSDO and routine analysis of GYS2 are essential for the correct diagnosis.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1407604
- author
- Spiegel, R. ; Mahamid, J. ; Orho-Melander, Marju LU ; Miron, D. and Horovitz, Y.
- organization
- publishing date
- 2007
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- autosomal recessive, glycogen storage disease, glycogen synthase, missense mutation, hypoglycemia, hyperglycemia
- in
- Journal of Pediatric Endocrinology & Metabolism
- volume
- 20
- issue
- 12
- pages
- 1339 - 1342
- publisher
- Freund Publishing House Ltd
- external identifiers
-
- wos:000252720800013
- scopus:38049098105
- ISSN
- 2191-0251
- language
- English
- LU publication?
- yes
- id
- 07cc1e7b-e78d-4b44-8d95-293d764151ae (old id 1407604)
- date added to LUP
- 2016-04-01 11:55:05
- date last changed
- 2024-04-08 18:20:26
@article{07cc1e7b-e78d-4b44-8d95-293d764151ae, abstract = {{We report two new cases of liver glycogen synthase deficiency (GSD0). The first patient presented at the age of 8 months with recurrent hypoglycemic seizures. The second patient presented at 14 months with asymptomatic incidental hyperglycemia. Glucose monitoring in both patients revealed daily fluctuations from fasting hypoglycemia to postprandial hyperglycemia. Genetic analysis of the GYS2 gene confirmed the diagnosis. GSDO is more common than previously assumed. Recognition of the variable phenotype spectrum of GSDO and routine analysis of GYS2 are essential for the correct diagnosis.}}, author = {{Spiegel, R. and Mahamid, J. and Orho-Melander, Marju and Miron, D. and Horovitz, Y.}}, issn = {{2191-0251}}, keywords = {{autosomal recessive; glycogen storage disease; glycogen synthase; missense mutation; hypoglycemia; hyperglycemia}}, language = {{eng}}, number = {{12}}, pages = {{1339--1342}}, publisher = {{Freund Publishing House Ltd}}, series = {{Journal of Pediatric Endocrinology & Metabolism}}, title = {{The variable clinical phenotype of liver glycogen synthase deficiency}}, volume = {{20}}, year = {{2007}}, }