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The variable clinical phenotype of liver glycogen synthase deficiency

Spiegel, R.; Mahamid, J.; Orho-Melander, Marju LU ; Miron, D. and Horovitz, Y. (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.
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author
organization
publishing date
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
2009-06-02 10:11:41
date last changed
2017-01-01 04:39:56
@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},
  keyword      = {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},
}