Malonyl-CoA decarboxylase deficiency
MeSH: C535702ORPHA: 943
Overview
Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD)
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 Malonyl-CoA decarboxylase deficiency, sourced from HPO and Orphanet clinical annotations.
Delayed speech and language developmentDystoniaMethylmalonic aciduriaElevated urine malonic acid levelMicrocephalySeizureGlobal developmental delayFailure to thriveGrowth delayCardiomyopathyMetabolic acidosisHypoglycemiaFeeding difficultiesReduced malonyl-CoA decarboxylase activity in cultured fibroblastsHypotoniaLethargyKetosisVomitingDiarrhea
Classification & Codes
MeSH Code
C535702Orphanet Code
ORPHA:943Malonyl-CoA decarboxylase deficiency
| MeSH | C535702 |
| Orphanet | ORPHA:943 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO