Chromosome: 6q25.3
Gene: SERAC1 (serine active site containing 1)
Mutations result in oxidative phosphorylation dysfunction in mitochondria and disruption of intracellular cholesterol trafficking.
Inheritance: autosomal recessive
The name is an acronym for the key features:
(MEG) 3-methylglutaconic aciduria
(D) deafness
(E) encephalopathy
(L) Leigh Syndrome like
Additional clinical findings:
(1) progressive spasticity and/or dystonia and/or hypotonia
(2) severe psychomotor retardation
(3) neonatal syndrome resembling sepsis but aseptic
(4) failure to thrive
(5) absent speech
(6) excessive drooling
(7) severe disability
Laboratory findings:
(1) neonatal hypoglycemia
(2) hypocholesterolemia
(3) fluctuating serum concentrations of transmaminases due hepatopathy
