vitamin B12-unresponsive methylmalonic acidemia type mut-
ORPHA: 793121 Treatment Available
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| carglumic acid Orphan | Oral dispersible tablets, 200mg | FDA Approved, EMA Approved | 8 | 14d |
Clinical Presentation
Signs and symptoms associated with vitamin B12-unresponsive methylmalonic acidemia type mut-, sourced from HPO and Orphanet clinical annotations.
Renal insufficiencyOptic atrophyIntellectual disabilitySeizureHypotoniaLethargyComaDysarthriaGlobal developmental delayChoreoathetosisStrokeDystoniaFailure to thriveCardiomyopathyPancreatitisSplenomegalyThrombocytopeniaDecreased total neutrophil countAnemiaDehydrationHyperammonemiaNausea and vomitingAbdominal painAnorexiaRespiratory distressHepatomegalyImmunodeficiencyFeeding difficultiesAbnormality of movement
Classification & Codes
Orphanet Code
ORPHA:79312vitamin B12-unresponsive methylmalonic acidemia type mut-
| Orphanet | ORPHA:79312 |
| Treatments | 1 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO