Summary
Definition
History and exam
Key diagnostic factors
- family history of GSD I
- frequent feedings
- hepatomegaly
- distended abdomen
Other diagnostic factors
- hyperpnea
- failure to thrive
- lethargy
- hypotonia
- tendency to bleed
- developmental delay
- nausea and vomiting
- seizures
- cushingoid appearance
- eruptive xanthomata
Diagnostic investigations
1st investigations to order
- serum glucose
- serum bicarbonate
- serum lactic acid
- serum uric acid
- serum triglycerides
- liver function (AST and ALT)
Investigations to consider
- glucagon stimulation test
- gene testing
- liver biopsy
Treatment algorithm
Contributors
Authors
Professor of Pediatrics
Harvard Medical School
Division of Endocrinology
Boston Children's Hospital
Boston
MA
Disclosures
JIW is an author of a number of references cited in this topic. He is also a section editor of Pediatric Endocrinology for UpToDate, for which he receives royalties. JIW has received consulting fees for serving on the data safety monitoring board for clinical trials performed by Ultragenyx and Xeris pharmaceuticals.
Assistant Professor of Pediatrics
Tufts University School of Medicine
Barbara Bush Children's Hospital
Portland
ME
Disclosures
MAD declares that he has no competing interests.
Peer reviewers
Director
Glycogen Storage Disease Program
University of Florida College of Medicine
Gainesville
FL
Disclosures
DAW declares that he has no competing interests.
Consultant and Honorary Reader in Inherited Metabolic Disease
Charles Dent Metabolic Unit
National Hospital for Neurology and Neurosurgery
Queen Square
London
UK
Disclosures
PL declares that he has no competing interests. We have since been made aware that Dr Philip Lee is deceased.
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