Last reviewed: November 2017
Last updated: April  2017

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

Risk factors

  • family history

Diagnostic investigations

1st investigations to order

  • serum glucose
  • serum bicarbonate
  • serum lactic acid
  • serum uric acid
  • serum triglycerides
  • liver function (AST and ALT)
Full details

Investigations to consider

  • glucagon stimulation test
  • gene testing
  • liver biopsy
Full details

Treatment algorithm

ONGOING

Contributors

Authors VIEW ALL

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 monograph. He is also a section editor of Pediatric Endocrinology for UpToDate, for which he receives royalties.

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 VIEW ALL

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.

Director

Glycogen Storage Disease Program

University of Florida College of Medicine

Gainesville

FL

Disclosures

DAW declares that he has no competing interests.

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