3-methylglutaconic aciduria type 4
MeSH: C565393ORPHA: 67048
Overview
3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid
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-methylglutaconic aciduria type 4, sourced from HPO and Orphanet clinical annotations.
MicrocephalyHearing impairmentCataractIntellectual disabilitySeizureHypotoniaSpasticityGlobal developmental delayDecreased liver functionFailure to thriveCardiomyopathyThrombocytopeniaHypoglycemiaDysgenesis of the cerebellar vermisLactic acidosis3-Methylglutaconic aciduriaIris hypopigmentation
Classification & Codes
MeSH Code
C565393Orphanet Code
ORPHA:670483-methylglutaconic aciduria type 4
| MeSH | C565393 |
| Orphanet | ORPHA:67048 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO