Inborn Lysosomal Storage Disorders Affecting the Nervous System
Lysosomes are membrane-bound cytoplasmic bodies involved in the degradation of material or debris resulting from autolysis, phagocytosis or other metabolic processes. They contain numerous degradative enzymes which are most active in an acid environment such as that found within the lysosome. Lysosomal enzymes are classified according to their functions; for instance, glycosidases remove specific sugar residues from complex carbohydrates or glycolipids, cathepsins (proteinases) degrade protein and the sulphatases remove ester sulphate groups which are covalently linked to organic residues (e.g. sugars).
KeywordsHeparan Sulphate Prenatal Diagnosis Fabry Disease Gauche Disease Dermatan Sulphate
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