3-methylglutaconic aciduria type 1
Findings
No curated finding names 3-methylglutaconic aciduria type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.
Definition from the Mondo Disease Ontology (MONDO:0009610), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Adult onset · Infantile onset
HPO, annotations 2026-09-02
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- 3-Methylglutaconic aciduriaHPOHP:0003535
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Reduced tissue 3-methylglutaconyl-CoA hydratase activityHPOHP:6000577
- 2 of 2 reported patients
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 4 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 10 reported patients
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- 4 of 20 reported patients
Show the remaining 10
- Progressive cerebellar ataxiaHPOHP:0002073
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Spastic tetraparesisHPOHP:0001285
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- 3 of 10 reported patients
- DementiaHPOHP:0000726
- 2 of 10 reported patients · Adult onset
- SpasticityHPOHP:0001257
- 2 of 10 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AUHHGNC:890
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: 3-methylglutaconic aciduria type 1
- Also called
- 3-methylglutaconic aciduria caused by mutation in AUH3-methylglutaconyl-CoA hydratase deficiency3MG-CoA hydratase deficiencyAUH 3-methylglutaconic aciduriaMGA1