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glycogen storage disease due to glucose-6-phosphatase deficiency

ORPHA: 364

Contents

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

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 due to glucose-6-phosphatase deficiency, sourced from HPO and Orphanet clinical annotations.

Full cheeksXanthomatosisSeizureHypotoniaHypoglycemiaHyperuricemiaRecurrent respiratory infectionsRecurrent infectionsHyperlipidemiaShort statureCognitive impairment

Classification & Codes

Orphanet Code

ORPHA:364
glycogen storage disease due to glucose-6-phosphatase deficiency
OrphanetORPHA:364
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO