Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations
(2002) In Journal of Pediatrics 140(6). p.781-783- Abstract
- Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia. Because of the variable presentation of this disorder and previous dependence on liver biopsy to confirm diagnosis, it is likely that GSD0 is underdiagnosed.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/334486
- author
- Bachrach, BE ; Weinstein, DA ; Orho-Melander, Marju LU ; Burgess, A and Wolfsdorf, JI
- organization
- publishing date
- 2002
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Journal of Pediatrics
- volume
- 140
- issue
- 6
- pages
- 781 - 783
- publisher
- Academic Press
- external identifiers
-
- wos:000176520300027
- pmid:12072888
- scopus:0036085512
- pmid:12072888
- ISSN
- 1097-6833
- DOI
- 10.1067/mpd.2002.124317
- language
- English
- LU publication?
- yes
- id
- 1cef7c1f-0d06-4f53-9075-6e3bfe426521 (old id 334486)
- date added to LUP
- 2016-04-01 11:46:10
- date last changed
- 2024-04-22 16:27:01
@article{1cef7c1f-0d06-4f53-9075-6e3bfe426521, abstract = {{Although glycogen storage disease type 0 (GSD0) is included in the differential diagnosis of ketotic hypoglycemia, it usually is not considered in the evaluation of glucosuria or hyperglycemia. We describe two children with GSD0, confirmed by mutation analysis, who had glucosuria and hyperglycemia. Because of the variable presentation of this disorder and previous dependence on liver biopsy to confirm diagnosis, it is likely that GSD0 is underdiagnosed.}}, author = {{Bachrach, BE and Weinstein, DA and Orho-Melander, Marju and Burgess, A and Wolfsdorf, JI}}, issn = {{1097-6833}}, language = {{eng}}, number = {{6}}, pages = {{781--783}}, publisher = {{Academic Press}}, series = {{Journal of Pediatrics}}, title = {{Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: Report of three new mutations}}, url = {{http://dx.doi.org/10.1067/mpd.2002.124317}}, doi = {{10.1067/mpd.2002.124317}}, volume = {{140}}, year = {{2002}}, }