OrphanDrug
OrphanDrug
Pharma Knowledge Base

glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

MeSH: C538133ORPHA: 284426

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 lactate dehydrogenase M-subunit deficiency, sourced from HPO and Orphanet clinical annotations.

Abnormal deliveryEasy fatigabilityExercise-induced myalgiaExercise-induced myoglobinuriaElevated creatine kinase after exerciseExercise-induced rhabdomyolysisRegional abnormality of skinErythematous plaquePsoriasiform lesionAnnular cutaneous lesionScaling skinPustuleParakeratosisAcute kidney injuryHeat intoleranceElevated circulating hepatic transaminase concentrationHypercalcemiaIntermittent generalized erythematous papular rashChronic kidney diseaseSuperficial dermal perivascular inflammatory infiltratePredominantly dermal neutrophilic infiltrateAbnormal circulating lactate dehydrogenase concentrationPruritus

Classification & Codes

MeSH Code

C538133

Orphanet Code

ORPHA:284426
glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
MeSHC538133
OrphanetORPHA:284426
Treatments0 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO