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methylmalonic acidemia with homocystinuria

MeSH: C537359ORPHA: 26

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 methylmalonic acidemia with homocystinuria, sourced from HPO and Orphanet clinical annotations.

MicrocephalyRetinopathyAmblyopiaIntellectual disabilitySeizureHypotoniaLethargyGlobal developmental delayFailure to thriveMegaloblastic bone marrowFeeding difficultiesFatigueHydrocephalusAtypical behaviorGait disturbanceAbnormal cardiovascular system morphologyAbnormality of movementSkin rash

Classification & Codes

MeSH Code

C537359

Orphanet Code

ORPHA:26
methylmalonic acidemia with homocystinuria
MeSHC537359
OrphanetORPHA:26
Treatments0 drug(s)
Symptoms on record18 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO