This disorder is also known at L-2-Hydroxyglutaric acidemia. Patients have a persistent increase of L-2-hydroxyglutaric acid in the urine.
On imaging patients have increased T2 signal involving the subcortical white matter, globi pallidi, and dentate nuclei. The cerebral hemisphere white matter signal abnormalities have a slight anteroposterior gradient, with sparing of periventricular white matter. The basal ganglia are subtly abnormal, affecting the globi pallidi, with increased T2 signal. The dentate nuclei are usually abnormal, manifesting increased T2 signal. They may subsequently develop brainstem and cerebellar atrophy
The sucortical white matter shows hyperplasia of the astrocytes, with demyelination and cystic caviatation. These result in increased T2 signal. The basal ganglia and cerebellum demonstrate spongiosis wtihout cavitation. These patients may be at increased risk of developing brain tumors (? oncogenic role of 2-hydroxyglutarate).