[MIM 614 739]

(3-methylglutaconic aciduria-deafness-encephalopathy Leigh-like syndrome, 3-methylglutaconic aciduria  type 6).

Acronym for: 3-methylglutaconic aciduria (MEG), deafness (D), encephalopathy (E) and Leigh-like disease (L)

Prevalence: < 1 / 1 000 000. Recessive autosomal transmission of a mutation of the SERAC1 gene (6q25.3). Currently considered as  a disorder of the biosynthesis complex lipids leading to secondary mitochondrial dysfunction.

Clinical presentation:

-        neonatal period: hepatic dysfunction and hypoglycemia (40%); hypotonia, growth retardation

-        infant: loss of acquisitions and appearance of  spasticity with oropharyngeal dystonia and dyskinesia, variable intellectual deficit

-   sometimes: epilepsy (35%), sensorineural deafness (79 %), absent speech (58%), blurred vision (42%), optic atrophy (25%).

-        and: frequent respiratory infections (42%), scoliosis (39%), eating disorders requiring a feeding gastrostomy (79%)

-        more rarely: renal tubular dysfunction (12%) cardiac anomalies (7%).

-        biology: high level of blood lactates and 3-methylglutaconic aciduria

-        MRI: lesions of the basal nodes similar to Leigh syndrome.

Anesthetic implications:

see mitochondrial cytopathies

References:

Updated: February 2018