3 methylcrotonyl-coa carboxylase 1 deficiency
ORPHA: 6
Overview
human disease
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 3 methylcrotonyl-coa carboxylase 1 deficiency, sourced from HPO and Orphanet clinical annotations.
HypotoniaSpasticityFailure to thrive in infancyHypoglycemiaHyperammonemiaOrganic aciduriaRespiratory insufficiencyAbnormal circulating leucine concentrationAbnormality of movementAbnormal cerebral vascular morphology
Classification & Codes
Orphanet Code
ORPHA:63 methylcrotonyl-coa carboxylase 1 deficiency
| Orphanet | ORPHA:6 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO