3-KETOTHIOLASE DEFICIENCY - A REVIEW AND 4 NEW PATIENTS WITH NEUROLOGIC SYMPTOMS

3-Ketothiolase deficiency (3KTD) manifests with intermittent acidosis and is due to a deficiency of mitochondrial 2-methylacetoacetate thiol ase. Only 22 patients have been previously reported. Although its vari able clinical presentation is recognized, the associated neurological findings have not been detailed. We report four new patients all with significant neurological symptoms. Three patients were examined with M RI of the brain which showed increased T-2 intensity within the poster ior lateral part of the putamen bilaterally. In two the MRI was otherw ise normal; in one delayed myelination was also seen. These MRI putami nal findings may be typical enough to suggest the diagnosis of 3KTD. T wo of the three had abnormal EEGs; one had an abnormal VEP. 3KTD can t hus occur as an organic acidemia associated with encephalopathy.