The laboratory studies the molecular basis of two inherited disorders associated with deficiency of cystathionine ß-synthase (CBS) and propionyl CoA carboxylase (PCC).
CBS is a crucial regulator of serum levels of the thrombogenic amino acid homocysteine (Hcy) and is crucial for the tissue specific biosynthesis of cysteine. CBS deficiency is the most common cause of homocystinuria, an inherited autosomal recessive metabolic disease...more information here ...
PCC is a mitochondrial enzyme comprised of non-identical subunits encoded on different chromosomes. Deficiency of PCC causes propionic acidemia. This condition is an autosomal recessive trait that is often life threatening in neonates ...more information here ... 
