Type I glycogen storage disease

Last reviewed: 7 Jan 2023

Last updated: 29 Jan 2020

Disorder of glycogen breakdown and gluconeogenesis, typically presenting in infancy with hypoglycemia, hyperlacticacidemia, hypertriglyceridemia, and hepatomegaly.

Provision of a continuous glucose source is the mainstay of treatment, often in the form of frequent feeding with uncooked cornstarch.

Long-term sequelae include hepatic adenomas, hepatocellular carcinoma, and nephropathy.

Definition

Type I glycogen storage disease (GSD I) is a disorder of glucose production. It presents during the first year of life, usually with symptomatic hypoglycemia when an infant's feeding interval is increased or normal feeding is disrupted by acute illness. Clinical features at presentation typically include hepatomegaly, hyperlacticacidemia, and hypertriglyceridemia. Neutropenia is characteristically seen in GSD type Ib. All content herein referring to type I GSD includes type Ia and type Ib unless stated otherwise.

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

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

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

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

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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Type I glycogen storage disease

Summary

Definition

History and exam

Key diagnostic factors

Other diagnostic factors

Risk factors

Diagnostic investigations

1st investigations to order

Investigations to consider

Treatment algorithm

all patients

Contributors

Authors

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

Disclosures

Michael A. Dedekian, MD

Disclosures

Peer reviewers

David A. Weinstein, MD, MMSc

Disclosures

Philip Lee, MBBS

Disclosures

Differentials

Guidelines

Log in or subscribe to access all of BMJ Best Practice

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