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vitamin B12-responsive methylmalonic acidemia

ORPHA: 28

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 vitamin B12-responsive methylmalonic acidemia, sourced from HPO and Orphanet clinical annotations.

Renal insufficiencyIntellectual disabilityHypotoniaLethargyComaGlobal developmental delayFailure to thriveAnemiaDehydrationHyperammonemiaNausea and vomitingRespiratory insufficiencyHepatomegaly

Classification & Codes

Orphanet Code

ORPHA:28
vitamin B12-responsive methylmalonic acidemia
OrphanetORPHA:28
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO