We are studying a group of inborn errors of metabolism, the hereditary methylmalonic acidemias (MMA) and disorders of intracellular cobalamin metabolism, in the clinic and laboratory. Affected patients are medically fragile and suffer pansystemic complications such as metabolic stroke of the basal…
more ganglia, pancreatitis, end stage renal failure, growth impairment, osteoporosis, developmental delay, and retinal disease. These conditions have established both scientific and clinical precedence for the complexity of disease manifestations and pathological mechanisms that can arise in a recessive enzymopathy. Our studies aim to define disease mechanisms, replicate the disorders in model organisms, and assess new therapeutic approaches in the laboratory and in patients.
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