Introduction, biochemical basis and pathogenetic aspects of Cerebral OA using GA1 as a prototype

ICNC2024
Symposia: The ‘Cerebral’ In Organic Acidurias: From Basics To Treatment

Introduction, biochemical basis and pathogenetic aspects of Cerebral OA using GA1 as a prototype
Asuri Prasad

Organic acidurias (OAD) are a heterogeneous group of inherited disorders resulting in life-threatening “intoxications” or encephalopathies with a large burden of neurological sequelae. The disorders involve genes that encode enzymes that regulate amino acid catabolism. They include the systemic OAs, the cerebral OAs, and the ketogenic/ketolytic ones. The biochemical basis of these disorders involves several pathways and are characterized by the accumulation of organic acids, CoA, glycine esters generated upstream of the enzymatic block. Single or multiple organ systems may be affected in this group of metabolic disorders. The clinical phenotypes are often highly variable and range from encephalopathy to movement disorders, epilepsy, ataxia, and intellectual and motor disability. GCDH deficiency represents a prototype amongst the OAD. The speaker will give a brief introduction to the biochemical basis for OAD, and delve into the genetics and neuropathogenesis of providing the basis for the development of interventions in isolated aboriginal population with GCDH deficiency in Canada.