Original paper
Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels
Abstract
Glycogen storage disease type 1a (GSD Ia) is an inborn error of metabolism caused by mutations in the G6PC gene, encoding the catalytic subunit of glucose-6-phosphatase. Early symptoms include severe fasting intolerance, failure to thrive and hepatomegaly, biochemically associated with nonketotic hypoglycemia, fasting hyperlactidemia, hyperuricemia and hyperlipidemia. Dietary management is the cornerstone of treatment aiming at maintaining...
Paper Details
Title
Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels
Published Date
Dec 9, 2019
Journal
Volume
29
Issue
2
Pages
264 - 273
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Notes
History