Go-Shay's disease
ACID-BETA-GLUCOSIDASE (a.k.a: β-Glucocerebrosidase)
http://ghr.nlm.nih.gov/condition/gaucher-disease
http://www.rightdiagnosis.com/g/glutathione_synthetase_deficiency/intro.htm
Table of amino acid changes for Genetic Diseases
3D structure guide for Gaucher's