mevalonic aciduria
MeSH: D054078ORPHA: 29
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 mevalonic aciduria, sourced from HPO and Orphanet clinical annotations.
Large fontanellesMicrocephalyDolichocephalyTriangular faceDownslanted palpebral fissuresIntellectual disabilitySeizureHypotoniaGlobal developmental delaySplenomegalyCerebral cortical atrophyDelayed skeletal maturationShort statureCataractBlue scleraeAtaxiaPosteriorly rotated ears
Classification & Codes
MeSH Code
D054078Orphanet Code
ORPHA:29mevalonic aciduria
| MeSH | D054078 |
| Orphanet | ORPHA:29 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO