[PS19] Parallel Session 19: Neurometabolic Disorder

[PS19-3C-2] Expanding the phenotype of thiamine transporter deficiency

^○Mohammad A. Al-Muhaizea (AlFaisal University, Deputy Chairman, Department of Neurosciences, King Faisal Specialest Hospital and Research Centre, Riyadh, Saudi Arabia)

Thiamine transporter deficiency is an autosomal recessive disorder, previously kown as biotin responsive basal ganglia disorder. It was first described by Pinar Ozand , thirty years ago. Classically,it presents with acute or subacute encephalopathy associated with seizures and abnormal signal of the basal ganglia on brain imaging. Genetic testing confirmed SLC19A3 to be the underlying cause. It functions as thiamine transporter. With the accumulating experience , it became apparent that such patients require thiamine as well as biotin supplementation. The presentation is commonly a childhood acute/ subacute encephalopathy, but also can present with recurrent attacks/ dystonia or infantile encphalopathy. The details of our cohort of more than 50 cases will be described. The disorder seem to be panethnic in Saudi Arabia. Early recognition and treatment is essential in preventing morbidity.