Summary
Definition
History and exam
Key diagnostic factors
- história familiar de doença de depósito de glicogênio tipo 1 (DDG 1)
- alimentações frequentes
- hepatomegalia
- abdome distendido
Other diagnostic factors
- hiperpneia
- deficit no crescimento
- puberdade tardia
- letargia
- hipotonia ou dor muscular pela manhã
- tendência ao sangramento
- atraso do desenvolvimento
- náuseas e vômitos
- convulsões
- aparência cushingoide
- xantomas eruptivos
Risk factors
- história familiar
Diagnostic investigations
1st investigations to order
- glicose sérica
- bicarbonato sérico
- ácido lático sérico
- ácido úrico sérico
- triglicerídeos séricos
- AST e ALT
Investigations to consider
- análise gênica
- perfil bioquímico
- marcadores bioquímicos
- biópsia hepática
Treatment algorithm
todos os pacientes
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.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
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
- Doença de depósito de glicogênio tipo 3 (DDG 3)
- Doença de depósito de glicogênio tipo 6 e 9 (DDG 6 e 9)
- Doença de depósito de glicogênio tipo 11 (DDG 11)
More DifferentialsGuidelines
- Diagnosis and management of glycogen storage disease type I
More Guidelines
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