3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Findings
No curated finding names 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013875), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
31 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
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Developmental regressionHPOHP:0002376
- 15 of 15 reported patients
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- 14 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- 14 of 14 reported patients
- Putaminal eye signHPOHP:6001454
- 30 of 30 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 13 of 14 reported patients
Show the remaining 19
- HyperalaninemiaHPOHP:0003348
- 8 of 13 reported patients
- 3-Methylglutaric aciduriaHPOHP:0003344
- Frequent (30% to 79% of cases)
- Degeneration of the striatumHPOHP:0040140
- Frequent (30% to 79% of cases)
- EncephalopathyHPOHP:0001298
- Frequent (30% to 79% of cases)
- Failure to thrive in infancyHPOHP:0001531
- Frequent (30% to 79% of cases)
- Hepatic failureHPOHP:0001399
- Frequent (30% to 79% of cases)
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.
- SERAC1HGNC:21061
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
- Also called
- 3-methylglutaconic aciduria caused by mutation in SERAC13-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndromeMEGDELMEGDEL syndromeMGCA6SERAC1 3-methylglutaconic aciduria