Barry Rosenbloom

Glycogen storage diseases: hematological aspects What every physician needs to know: The glycogen storage diseases (GSDs) are a group of inherited inborn errors of metabolism resulting from mutations in the genes responsible for the proteins (enzymes) involved with glycogen synthesis, degradation, and regulation. These diseases can be autosomal recessive (AR) or X-linked (XL). Accumulation of…

Gaucher disease What every physician needs to know: Gaucher disease is an inborn error of metabolism in the family of lysosomal storage diseases due to a deficiency of glucocerebrosidase (acid beta-glucosidase [GBA or GCase]). As a result, the substrate (glucosylceramide or glucocerebroside which is a component of cell membranes) accumulates in the macrophages of the…