Last reviewed: February 2020
Last updated: January  2020

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)
More 1st investigations to order

Investigations to consider

  • glucagon stimulation test
  • gene testing
  • liver biopsy
More investigations to consider

Treatment algorithm

Contributors

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 reviewersVIEW ALL

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.

Use of this content is subject to our disclaimer