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.
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
- distended abdomen
Other diagnostic factors
- failure to thrive
- tendency to bleed
- developmental delay
- nausea and vomiting
- cushingoid appearance
- eruptive xanthomata
- family history
1st investigations to order
- serum glucose
- serum bicarbonate
- serum lactic acid
- serum uric acid
- serum triglycerides
- liver function (AST and ALT)
Investigations to consider
- glucagon stimulation test
- gene testing
- liver biopsy
Joseph I. Wolfsdorf, MB, BCh, DCH, FCP, FAAP
Professor of Pediatrics
Harvard Medical School
Division of Endocrinology
Boston Children's Hospital
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
MAD declares that he has no competing interests.
David A. Weinstein, MD, MMSc
Glycogen Storage Disease Program
University of Florida College of Medicine
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
PL declares that he has no competing interests. We have since been made aware that Dr Philip Lee is deceased.
- 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)
- Diagnosis and management of glycogen storage disease type I
- Guidelines for management of glycogen storage disease type I
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