methylmalonic aciduria and homocystinuria type cblD
ORPHA: 79283
Overview
methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities
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 aciduria and homocystinuria type cblD, sourced from HPO and Orphanet clinical annotations.
Atypical behaviorPallorIntellectual disabilitySeizureLethargyGlobal developmental delayGait disturbanceFailure to thriveMegaloblastic bone marrowAnorexiaFatigueAbnormality of movement
Classification & Codes
Orphanet Code
ORPHA:79283methylmalonic aciduria and homocystinuria type cblD
| Orphanet | ORPHA:79283 |
| Treatments | 0 drug(s) |
| Symptoms on record | 12 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO