methylmalonyl-CoA mutase deficiency
ORPHA: 27
Overview
methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has material basis in mutation in the MUT gene on chromosome 6p12.3
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 methylmalonyl-CoA mutase deficiency, sourced from HPO and Orphanet clinical annotations.
Renal insufficiencyOptic atrophyIntellectual disabilitySeizureAtaxiaHypotoniaLethargyComaGlobal developmental delayChoreoathetosisCardiomyopathyPancreatitisThrombocytopeniaDecreased total leukocyte countAnemiaDehydrationMacrocytic anemiaHyperammonemiaNausea and vomitingRespiratory insufficiencyAbnormal speech patternHepatomegalyTetraparesisParaparesisImmunodeficiency
Classification & Codes
Orphanet Code
ORPHA:27methylmalonyl-CoA mutase deficiency
| Orphanet | ORPHA:27 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO