3-methylglutaconic aciduria type 4
MONDO:0009611Mondo
Findings
No curated finding names 3-methylglutaconic aciduria type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterized by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).
Definition from the Mondo Disease Ontology (MONDO:0009611), read 2026-09-29. CC BY 4.0.
Features
17 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
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
- Dysgenesis of the cerebellar vermisHPOHP:0002195
- Frequent (30% to 79% of cases)
- CardiomyopathyHPOHP:0001638
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Decreased liver functionHPOHP:0001410
- Occasional (5% to 29% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
Show the remaining 5
- HypoglycemiaHPOHP:0001943
- Occasional (5% to 29% of cases)
- Iris hypopigmentationHPOHP:0007730
- Occasional (5% to 29% of cases)
- Lactic acidosisHPOHP:0003128
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- ThrombocytopeniaHPOHP:0001873
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: 3-methylglutaconic aciduria type 4
- Also called
- MGA4MGCA4