Conditions / Genetic
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
info · Genetic
A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.
Signs and symptoms
- Dystonia
- Intellectual disability
- Developmental regression
- Global developmental delay
- Putaminal eye sign
- 3-Methylglutaconic aciduria
- Increased circulating lactate concentration
- Sensorineural hearing impairment
- Spasticity
- Brain atrophy
Also known as: 3-methylglutaconic aciduria type 6; MEGDEL; MEGDEL syndrome; MGCA6