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3-methylglutaconic aciduria type IX

ORPHA: 505216

Contents

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

Overview

3-methylglutaconic aciduria that has material basis in homozygous mutation in the TIMM50 gene on chromosome 19q13

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 IX, sourced from HPO and Orphanet clinical annotations.

Aggressive behaviorHypotoniaEncephalopathyMuscle weaknessFailure to thriveSlender buildCerebral atrophyStatus epilepticusIncreased circulating lactate concentrationAbnormal speech patternClonusDelayed gross motor developmentEEG abnormality3-Methylglutaconic aciduriaDiffuse white matter abnormalitiesSevere intellectual disabilityDecreased activity of mitochondrial ATP synthase complexDelayed ability to walkUrinary incontinenceOptic atrophySeizureSpasticityAbsent speechHyperreflexiaHypsarrhythmia

Classification & Codes

Orphanet Code

ORPHA:505216
3-methylglutaconic aciduria type IX
OrphanetORPHA:505216
Treatments0 drug(s)
Symptoms on record25 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO