Diagnosis and Management of Glycogen Storage Disease Type I

Authoring Organization

Publication Month/Year

August 1, 2014

Last Updated Month/Year

June 27, 2023

Document Type


External Publication Status


Country of Publication


Inclusion Criteria

Female, Male, Adolescent, Child, Infant

Health Care Settings

Ambulatory, Childcare center, Emergency care, Hospital, Long term care

Intended Users

Medical techologist technician, genetics, nurse, nurse practitioner, physician, physician assistant


Diagnosis, Management, Treatment


neutropenia, glycogen storage disease, glycogen storage disease type I, von Gierke disease, neutrophil function

Source Citation

Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics. 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. doi: 10.1038/gim.2014.128. PMID: 25356975.