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Doença de depósito de glicogênio tipo 1

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  • Teoria
  • Diagnóstico
  • Tratamento
  • ACOMPANHAMENTO
  • Recursos
Última revisão: 11 Apr 2025
Última atualização: 16 Jan 2024

Resumo

Definição

História e exame físico

Principais fatores diagnósticos

  • história familiar de doença de depósito de glicogênio tipo 1 (DDG 1)
  • alimentações frequentes
  • hepatomegalia
  • abdome distendido
Detalhes completos

Outros fatores diagnósticos

  • 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
Detalhes completos

Fatores de risco

  • história familiar
Detalhes completos

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • glicose sérica
  • bicarbonato sérico
  • ácido lático sérico
  • ácido úrico sérico
  • triglicerídeos séricos
  • AST e ALT
Detalhes completos

Investigações a serem consideradas

  • análise gênica
  • perfil bioquímico
  • marcadores bioquímicos
  • biópsia hepática
Detalhes completos

Algoritmo de tratamento

CONTÍNUA

todos os pacientes

Colaboradores

Autores

Terry G. J. Derks, MD, PhD

Consultant in Pediatric Metabolic Diseases

University Medical Center Groningen

University of Groningen

Groningen

The Netherlands

Declarações

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

Declarações

ABS declares that she has no competing interests.

Foekje de Boer, RD

Registered dietitian

University Medical Center Groningen

University of Groningen

Groningen

The Netherlands

Declarações

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.

Agradecimentos

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.

Revisores

Panagiota Andreopoulou, MD

Assistant Professor of Medicine

Division of Endocrinology, Diabetes & Metabolism

Weill Cornell Medical College

New York

NY

Declarações

PA declares that she has no competing interests.

Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

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.Texto completo  Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.

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  • Diretrizes

    • Diagnosis and management of glycogen storage disease type I
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