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  2. Enzyme replacement therapy - Wikipedia

    en.wikipedia.org/wiki/Enzyme_replacement_therapy

    Lysosomes are cellular organelles that are responsible for the metabolism of many different macromolecules and proteins. [7] They use enzymes to break down macromolecules, which are recycled or disposed. [7] As of 2012, there are 50 lysosomal storage diseases, and more are still being discovered.

  3. Lysosomal storage disease - Wikipedia

    en.wikipedia.org/wiki/Lysosomal_storage_disease

    The lysosome is commonly referred to as the cell's recycling center because it processes unwanted material into substances that the cell can use. Lysosomes break down this unwanted matter by enzymes, highly specialized proteins essential for survival. Lysosomal disorders are usually triggered when a particular enzyme exists in too small an ...

  4. Lysosome - Wikipedia

    en.wikipedia.org/wiki/Lysosome

    A lysosome (/ ˈ l aɪ s ə ˌ s oʊ m /) is a single membrane-bound organelle found in many animal cells. [1] [2] They are spherical vesicles that contain hydrolytic enzymes that digest many kinds of biomolecules. A lysosome has a specific composition, of both its membrane proteins and its lumenal proteins.

  5. Glycogen storage disease type II - Wikipedia

    en.wikipedia.org/wiki/Glycogen_storage_disease...

    Myozyme treatment prolongs ventilator-free survival and overall survival. Early diagnosis and early treatment lead to much better outcomes. The treatment is not without side effects which include fever, flushing, skin rash, increased heart rate, and even shock; these conditions, however, are usually manageable. [citation needed]

  6. Lipid storage disorder - Wikipedia

    en.wikipedia.org/wiki/Lipid_storage_disorder

    Many lipid storage disorders can be classified into the subgroup of sphingolipidoses, as they relate to sphingolipid metabolism. Members of this group include Niemann-Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease, metachromatic leukodystrophy, multiple sulfatase deficiency, and Farber disease.

  7. Lysozyme - Wikipedia

    en.wikipedia.org/wiki/Lysozyme

    Lysozyme Identifiers EC no. 3.2.1.17 CAS no. 9001-63-2 Databases IntEnz IntEnz view BRENDA BRENDA entry ExPASy NiceZyme view KEGG KEGG entry MetaCyc metabolic pathway PRIAM profile PDB structures RCSB PDB PDBe PDBsum Gene Ontology AmiGO / QuickGO Search PMC articles PubMed articles NCBI proteins Protein family Glycoside hydrolase, family 22, lysozyme Lysozyme crystals stained with methylene ...

  8. PPT1 - Wikipedia

    en.wikipedia.org/wiki/PPT1

    PPT-1 a member of the palmitoyl protein thioesterase family. PPT-1 is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. This enzyme removes thioester -linked fatty acyl groups such as palmitate from cysteine residues.

  9. Neuronal ceroid lipofuscinosis - Wikipedia

    en.wikipedia.org/wiki/Neuronal_ceroid_lipofuscinosis

    The classic characterization of the group of neurodegenerative, lysosomal storage disorders called the neuronal ceroid lipofuscinoses (NCLs) is through the progressive, permanent loss of motor and psychological ability with a severe intracellular accumulation of lipofuscins, [2] [3] with the United States and Northern European populations having slightly higher frequency with an occurrence of ...