Ontology highlight
ABSTRACT:
SUBMITTER: Orho M
PROVIDER: S-EPMC508911 | biostudies-other | 1998 Aug
REPOSITORIES: biostudies-other
The Journal of clinical investigation 19980801 3
Glycogen storage disease type 0 (GSD-0) is a rare form of fasting hypoglycemia presenting in infancy or early childhood and accompanied by high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia. The glycogen synthase (GS) activity has been low or immeasurable in liver biopsies, whereas the liver glycogen content has been only moderately decreased. To investigate whether mutations in the ...[more]