Ocular Features of Treatable Lysosomal Storage Disorders— Fabry Disease, Mucopolysaccharidoses I, II, and VI, and Gaucher Disease
نویسندگان
چکیده
Lysosomal storage disorders (LSDs) are a group of more than 50 inheritable disorders. Although individually rare, they collectively affect approximately one in 5,000 live births. Defective metabolism of proteins, carbohydrates, or lipids resulting from deficiency of one of the many lysosomal enzymes leads to pathological accumulation of substances within the lysosomes. This lysosomal accumulation triggers an insidious cascade of processes generally leading to progressive tissue damage and organ failure.
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