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Type I glycogen storage disease

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Last reviewed: 8 Jun 2025
Last updated: 10 Jan 2025

Summary

Definition

History and exam

Key diagnostic factors

  • family history of GSD I
  • frequent feedings
  • hepatomegaly
  • distended abdomen
Full details

Other diagnostic factors

  • hyperpnea
  • faltering growth
  • delayed puberty
  • lethargy
  • hypotonia or muscle pain in the morning
  • tendency to bleed
  • developmental delay
  • nausea and vomiting
  • seizures
  • cushingoid appearance
  • eruptive xanthomata
Full details

Risk factors

  • family history
Full details

Diagnostic tests

1st tests to order

  • serum glucose
  • serum bicarbonate
  • serum lactic acid
  • serum uric acid
  • serum triglycerides
  • AST and ALT
Full details

Tests to consider

  • gene testing
  • biochemical profile
  • biochemical markers
  • liver biopsy
Full details

Treatment algorithm

ONGOING

all patients

Contributors

Authors

Terry G. J. Derks, MD, PhD

Consultant in Pediatric Metabolic Diseases

University Medical Center Groningen

University of Groningen

Groningen

The Netherlands

Disclosures

University Medical Center Groningen (UMCG) has received research grants by Ultragenyx Pharmaceutical Inc. for an investigator-initiated study by TD. TD has confidentiality agreements with several pharmaceutical and medical food companies and has consultancy agreements with Danone, Ultragenyx Pharmaceutical Inc, Moderna, and Beam Therapeutics. In the last 36 months, the UMCG received funding for the following sponsor-initiated clinical trials in which TD acted as the (local) PI: NCT03517085, NCT03970278, NCT05139316, and NCT05196165. For all private-public partnerships by TD, contracts are via the UMCG Contract Research Desk and all payments are to the UMCG. TD is an author of some of the references in this topic.

Andrea B Schreuder, MD, PhD

Pediatrician

Fellow in Pediatric Metabolic Medicine

University Medical Center Groningen

University of Groningen

Groningen

The Netherlands

Disclosures

ABS declares that she has no competing interests.

Foekje de Boer, RD

Registered dietitian

University Medical Center Groningen

University of Groningen

Groningen

The Netherlands

Disclosures

FdB has participated in the following trials: NCT02318966 - Glycosade v UCCS in the Dietary Management of Hepatic GSD (Glyde) sponsored by Vitaflo International, Ltd.; NCT03517085 - Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa) sponsored by Ultragenyx Pharmaceutical Inc.; NCT03970278 - Long-Term Follow-up to Evaluate the Safety and Efficacy of Adeno Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6-Phosphatase (G6Pase) in Adults With Glycogen Storage Disease Type Ia (GSDIa); NCT05139316 - A Study of Adeno-Associated Virus Serotype 8-Mediated Gene Transfer of Glucose-6-Phosphatase in Patients With Glycogen Storage Disease Type Ia (GSDIa). All contracts are via the University Medical Center Groningen (UMCG) Contract Research Desk and all payments are to the UMCG.

Acknowledgements

The authors would like to gratefully acknowledge Dr Joseph I. Wolfsdorf and Dr Michael A. Dedekian, previous contributors to this topic. JIW is an author of a number of references cited in this topic. JIW has received consulting fees for serving on the data safety monitoring board for clinical trials performed by Ultragenyx and Xeris pharmaceuticals. MAD declares that he has no competing interests.

Peer reviewers

Panagiota Andreopoulou, MD

Assistant Professor of Medicine

Division of Endocrinology, Diabetes & Metabolism

Weill Cornell Medical College

New York

NY

Disclosures

PA declares that she has no competing interests.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Kishnani PS, Austin SL, Abdenur JE, et al. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov;16(11):e1.Full text  Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.

  • 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
    More Guidelines
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