ESPE Abstracts

Background: Loss of function mutations in SGPL1, a key component of sphingolipid metabolism, are associated with accumulation of sphingolipid intermediates giving rise to a multisystemic disease incorporating primary adrenal insufficiency (PAI) and progressive renal and neurological disease. Sphingolipids are implicated in mitochondrial apoptosis via induction of mitochondrial outer membrane permeabilization, cytosolic release of inter-membranal cytochrome c and activ...