methylmalonic acidemia
ICD-10: E71.1ORPHA: 289504
Overview
organic acidemia that involves an accumulation of methylmalonic acid in the blood
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, 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
ICD-10 Code
E71.1Orphanet Code
ORPHA:289504methylmalonic acidemia
| ICD-10 | E71.1 |
| Orphanet | ORPHA:289504 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO