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Mouse Model for Methylmalonic Acidemia, an Inherited Metabolic Disorder

Methylmalonic Acidemia (MMA) is a metabolic disorder affecting 1 in 25,000 to 48,000 individuals globally. MMA is characterized by increased acidity in the blood and tissues due to toxic accumulation of protein and fat by-products resulting in seizures, strokes, and chronic kidney failure. About 60% of MMA cases stem from mutations in the methylmalonyl...

Published: 7/25/2024 | Inventor(s): Eirini (Irini) Manoli, Charles Venditti

Keywords(s): Dysfunction, metabolic disorder, Methylmalonic acidemia, Methylmalonyl-CoA, methylmalonyl-CoA mutase, MITOCHONDRIAL, MMA, Model, Mouse, MUT, RENAL, RXXXXX, TRANSGENIC, transgenic mouse, YAXXXX, YBXXXX, YCXXXX

Category(s): Collaboration Sought > Collaboration, Application > Research Materials