3-methylglutaconic aciduria type 1

MeSH: C562801ORPHA: 670462 Treatments Available

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

3-methylglutaconic aciduria that has material basis in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22

Available Treatments (2)

Drug	Form	Status	Countries	Lead Time
L-carnitine Orphan	Oral tablets 330mg; oral solution 100mg/mL; IV injection 200mg/mL	FDA Approved, EMA Approved	9	5d
riboflavin	oral tablet, 50-400mg	FDA Approved	9	5d

Clinical Presentation

Signs and symptoms associated with 3-methylglutaconic aciduria type 1, sourced from HPO and Orphanet clinical annotations.

MicrocephalyDelayed speech and language developmentSeizureComaGlobal developmental delaySpastic tetraparesisDystoniaFailure to thriveHypoglycemiaProgressive cerebellar ataxiaAbnormal basal ganglia morphologyHepatomegaly3-Methylglutaconic aciduria

Classification & Codes

MeSH Code

C562801

Orphanet Code

ORPHA:67046

3-methylglutaconic aciduria type 1

MeSH	`C562801`
Orphanet	`ORPHA:67046`
Treatments	2 drug(s)
Symptoms on record	13 signs
Status	published

Treatment Summary

L-carnitine· Orphan riboflavin

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO