Rare diseases · Sign or symptom
3-Methylglutaconic aciduria
HP:0003535
What it means
An increased amount of 3-methylglutaconic acid in the urine.
3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine.
Rare diseases that can present with this14
Very common80–99%
10- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- 3-methylglutaconic aciduria type 1
- 3-methylglutaconic aciduria type 3
- 3-methylglutaconic aciduria type 4
- 3-methylglutaconic aciduria type 9
- Barth syndrome
- Dilated cardiomyopathy with ataxia
- Fatal infantile lactic acidosis with methylmalonic aciduria
- MEGDEL syndrome
- TMEM70-related mitochondrial encephalo-cardio-myopathy
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: 3-Methylglutaconicaciduria
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.