MEGDEL is a rare disorder that often presents during the neonatal period. It is one of the 3-methylglutaconic acidurias (3-MGCA).

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

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