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...

Triple A syndrome (AAAS) is a rare, incurable, recessive disorder, characterised by achalasia, alacrima, adrenal failure and a neurodegenerative phenotype. The AAAS gene encodes ALADIN, is a nuclear pore complex (NPC) protein necessary for nuclear import of DNA protective molecules, important for redox homeostasis. ALADIN’s role is not fully characterised: its discovery at the centrosome and the endoplasmic reticulum suggests a role outside the NPC. To date, the ...

Background: Atrioventricular (AV) conduction defects are rare but significant complications of hyperthyroidism. Beta-blockers and co-existent infection further increase the risk of such conduction abnormalities.Objective and hypotheses: We report the case of a 10-year old girl treated for tachycardia and hypertension associated with hyperthyroidism who developed symptomatic 2:1 heart block.Method: Our patient presented with a histo...