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Aldolase A deficiency

ICD-10: E74.1MeSH: C562718ORPHA: 57

Contents

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

Overview

medical condition

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 Aldolase A deficiency, sourced from HPO and Orphanet clinical annotations.

FeverReduced circulating aldolase concentrationMuscle weaknessHemolytic anemiaMyalgiaEMG: myopathic abnormalitiesViral infection-induced rhabdomyolysisSkeletal myopathyElevated creatine kinase after exerciseExercise-induced rhabdomyolysisMuscle fiber atrophyDelayed speech and language developmentIntellectual disabilityMotor delaySpecific learning disabilityGrowth delayAcute kidney injuryHyperkalemiaMyoglobinuriaDecreased muscle massArrhythmia

Classification & Codes

ICD-10 Code

E74.1

MeSH Code

C562718

Orphanet Code

ORPHA:57
Aldolase A deficiency
ICD-10E74.1
MeSHC562718
OrphanetORPHA:57
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO