Patients present in infancy with hypoglycemia, and metabolic acidosis. This disorder is caused by a mutation of the HMGCL gene.
On imaging there is diffuse hypomyelination which may spare the subcortical white matter. They may also develop increased T2 signal in the deep grey matter and cerebellar nuclei. Patients may develop superimposed grey matter (Caudate and putamina) injury from hypoglycemia