combined malonic and methylmalonic acidemia
MeSH: C580002ORPHA: 2895043 Treatments Available
Overview
human disease
Available Treatments (3)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Carnitine Orphan | Oral tablet 330mg; Oral solution 100mg/mL; IV injection 200mg/mL | FDA Approved, EMA Approved | 9 | 7d |
| hydroxycobalamin Orphan | intramuscular injection 1000 mcg/mL, intravenous infusion 2.5 g/vial | FDA Approved, EMA Approved | 8 | 14d |
| cyanocobalamin | intramuscular injection 1000 mcg/mL, oral tablet 1000 mcg, nasal spray 500 mcg/spray | FDA Approved | 8 | 7d |
Clinical Presentation
Signs and symptoms associated with combined malonic and methylmalonic acidemia, sourced from HPO and Orphanet clinical annotations.
Methylmalonic acidemiaDicarboxylic aciduriaMethylmalonic aciduriaDicarboxylic acidemiaSeizureMicrocephalyAtypical behaviorDelayed speech and language developmentGlobal developmental delayEncephalopathyDystoniaFailure to thriveAcidosisHypoglycemiaDehydrationKetoacidosisVomitingMigraineIntermittent diarrheaMemory impairmentFocal impaired awareness seizureElevated circulating hepatic transaminase concentrationAxial hypotoniaGeneralized clonic seizureImpaired continenceNasogastric tube feeding
Classification & Codes
MeSH Code
C580002Orphanet Code
ORPHA:289504combined malonic and methylmalonic acidemia
| MeSH | C580002 |
| Orphanet | ORPHA:289504 |
| Treatments | 3 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO