OrphanDrug
OrphanDrug
Pharma Knowledge Base

glycogen storage disease due to lactate dehydrogenase deficiency

ORPHA: 2364

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 glycogen storage disease due to lactate dehydrogenase deficiency, sourced from HPO and Orphanet clinical annotations.

Increased circulating lactate concentrationElevated circulating creatine kinase concentrationIncreased circulating pyruvate concentrationPalmoplantar hyperkeratosisMyoglobinuriaMyalgiaMuscle spasmMuscle stiffnessExercise-induced muscle fatigueRenal insufficiencyRhabdomyolysis

Classification & Codes

Orphanet Code

ORPHA:2364
glycogen storage disease due to lactate dehydrogenase deficiency
OrphanetORPHA:2364
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
glycogen storage disease due to lactate dehydrogenase deficiency | OrphanDrug