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glycogen storage disease due to phosphoglycerate kinase 1 deficiency

MeSH: C567067ORPHA: 713

Contents

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

Overview

Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities

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 phosphoglycerate kinase 1 deficiency, sourced from HPO and Orphanet clinical annotations.

Delayed speech and language developmentIntellectual disabilityAtaxiaGlobal developmental delayMuscle weaknessTremorHemolytic anemiaReticulocytosisMigraineHyperbilirubinemiaMyoglobinuriaMyopathyRhabdomyolysisMuscle spasmExercise-induced myalgiaExercise-induced muscle fatigueAbnormal nervous system physiologyDecreased hemoglobin concentrationRenal insufficiencyRetinal dystrophyBlindness

Classification & Codes

MeSH Code

C567067

Orphanet Code

ORPHA:713
glycogen storage disease due to phosphoglycerate kinase 1 deficiency
MeSHC567067
OrphanetORPHA:713
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO