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galactose epimerase deficiency

ORPHA: 79238

Contents

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

Overview

human 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 galactose epimerase deficiency, sourced from HPO and Orphanet clinical annotations.

CataractJaundiceIntellectual disabilityHypotoniaGlobal developmental delayGrowth delaySplenomegalyWeight lossNausea and vomitingHepatomegalyAminoaciduriaImpairment of galactose metabolismFeeding difficulties

Classification & Codes

Orphanet Code

ORPHA:79238
galactose epimerase deficiency
OrphanetORPHA:79238
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO