Type I glycogen storage disease

Last reviewed: 6 Sep 2022
Last updated: 29 Jan 2020

Summary

Definition

History and exam

Key diagnostic factors

  • family history of GSD I
  • frequent feedings
  • hepatomegaly
  • distended abdomen
More key diagnostic factors

Other diagnostic factors

  • hyperpnea
  • failure to thrive
  • lethargy
  • hypotonia
  • tendency to bleed
  • developmental delay
  • nausea and vomiting
  • seizures
  • cushingoid appearance
  • eruptive xanthomata
Other diagnostic factors

Risk factors

  • family history
More risk factors

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

ONGOING

all patients

Contributors

Authors

Joseph I. Wolfsdorf, MB, BCh, DCH, FCP, FAAP

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.

Michael A. Dedekian, MD

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

David A. Weinstein, MD, MMSc

Director

Glycogen Storage Disease Program

University of Florida College of Medicine

Gainesville

FL

Disclosures

DAW declares that he has no competing interests.

Philip Lee, MBBS

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.

  • Differentials

    • Glycogen storage disease type III (GSD III)
    • Glycogen storage disease type VI and IX (GSD VI and IX)
    • Glycogen storage disease type XI (GSD XI)
    More Differentials
  • Guidelines

    • Diagnosis and management of glycogen storage disease type I
    • Guidelines for management of glycogen storage disease type I
    More Guidelines
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