Lysosome Defects

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  • Mucopolysaccharidosis (MPS)

    One of the eleven enzymes required to break down these sugar chains into simpler molecules aren't produced, or they produce enzymes that do not work properly.

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  • Gaucher Disease (GD)

    Is caused by a hereditary deficiency of the enzyme glucocerebrosidase.

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  • Niemann–Pick Disease (NPC)

    This disease involves dysfunctional metabolism of sphingolipids, which are fats found in cell membranes, so it is a kind of sphingolipidosis.

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  • Fabry Disease (FD)

    Is a rare genetic lysosomal storage disease, inherited in an X-linked manner.

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  • Metachromatic Leukodystrophy (MLD)

    Leukodystrophies affect the growth and/or development of myelin.

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  • Other Related Errors of Metabolism

    Krabbe Disease, Sanfilippo Syndrome, Pycnodysostosis and many more ...

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