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glycogen storage disease due to muscle beta-enolase deficiency

MeSH: C567861ORPHA: 99849

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Classification & Codes

Overview

Muscle beta-enolase deficiency is a glycolysis disorder reported in one patient to date and characterized clinically by exercise intolerance and myalgia due to severe enolase deficiency in muscle

Available Treatments (0)

No treatments linked yet

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

Classification & Codes

MeSH Code

C567861

Orphanet Code

ORPHA:99849
glycogen storage disease due to muscle beta-enolase deficiency
MeSHC567861
OrphanetORPHA:99849
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO