Dr. Matteo Bordi presents recent research on mitochondrial metabolism in ADSL deficiency, highlighting the complexity of ADSL Deficiency and the need for further research to understand its underlying mechanisms and potential treatments. He explained how mitochondrial morphology and activity are affected in ADSL-deficient cells, with more severe defects in cells from patients with more severe disease. The research team used various models, including human cells, fruit flies, and mice, to study...

Dr. Pandey discusses how genetic enzyme deficiencies can act as critical drivers of complement activation and inflammation in distinct metabolic disorders. In Gaucher disease, deficiency of the lysosomal enzyme glucocerebrosidase leads to pathological accumulation of glucosylceramide, which triggers complement activation and drives both visceral and neuroinflammatory responses. Similarly, in ADSL deficiency disorder (ADSLDD), loss of adenylosuccinate lyase (ADSL) function results in...

AN "EASIER TO UNDERSTAND" PRESENTATION GEARED TOWARDS RARE BIRDS FAMILIES AND SCIENTISTS ALIKE! Dr. Hanna-Rose presents her research using C. elegans worms to study the treatment of ADSL deficiency, focusing on three main phenotypes: uncoordinated movement, learning defects, and neuromuscular junction problems. She explained how these phenotypes are linked to SAICAR toxicity and potential interference with production of tyramine and dopamine, which are both synthesized from tyrosine. Wendy's...