Considered separately, inherited metabolic disorders such as Tay-Sachs disease and mucopolysaccharidosis 4A (MPS 4A) are exceedingly rare, complex and difficult to study. But taken as a group, the collection of more than 50 lysosomal storage diseases become more common, affecting approximately 1 in 7,000 births, and lessons learned about any one can be applied to the others.
Now a team of structural biologists led by Scott Garman of Biochemistry and Molecular Biology has again moved the field forward by revealing the structure of human galactosamine-6-sulfatase (GALNS), the lysosomal enzyme