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glycogen storage disease I

MeSH: D005953ORPHA: 364

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

rare disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with glycogen storage disease I, sourced from HPO and Orphanet clinical annotations.

Full cheeksXanthomatosisSeizureHypotoniaHypoglycemiaHyperuricemiaRecurrent respiratory infectionsRecurrent infectionsHyperlipidemiaShort statureCognitive impairment

Classification & Codes

MeSH Code

D005953

Orphanet Code

ORPHA:364
glycogen storage disease I
MeSHD005953
OrphanetORPHA:364
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
glycogen storage disease I | OrphanDrug