3-hydroxy-3-methylglutaryl-CoA synthase deficiency
MeSH: C567784ORPHA: 35701
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-hydroxy-3-methylglutaryl-CoA synthase deficiency, sourced from HPO and Orphanet clinical annotations.
SeizureAbnormality of metabolism/homeostasisHypoglycemia
Classification & Codes
MeSH Code
C567784Orphanet Code
ORPHA:357013-hydroxy-3-methylglutaryl-CoA synthase deficiency
| MeSH | C567784 |
| Orphanet | ORPHA:35701 |
| Treatments | 0 drug(s) |
| Symptoms on record | 3 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO