Canavan disease
Canavan disease is a lysosomal storage disease that results in spongy degeneration of the central nervous system. Find links here to information and resources. Fabry disease
Fabry disease is a storage disorder in which a fatty substance is deposited in the body's tissues. Find links here to information and resources.
Gaucher disease
Gaucher disease is a hereditary disorder of glucocerebroside metabolism. Find links here to information and resources. Hunter Syndrome-Mucopolysaccharidosis II
Hunter syndrome is a form of mucopolysaccharidosis caused by a deficiency of the enzyme iduronate-2-sulfatase. Hurler Syndrome
Hurler Syndrome is a form of mucopolysaccharidosis caused by a deficiency of the enzyme alpha-L-iduronidase. Krabbe Disease
Links to articles, information, and resources for Krabbe disease. Niemann-Pick disease
Niemann-Pick disease is a storage disorder in which a fatty substance is deposited in the body's tissues. Find links here to information and resources. Pompe Disease
Hereditary metabolic disorder caused by deficiency of acid alpha-glucosidase. Tay-Sachs and Sandhoff diseases
Tay-Sachs and Sandhoff diseases involve deficiencies of the enzyme hexosaminidase. Find links here to information and resources for both diseases.
| 