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  2. Lysosomal storage disease - Wikipedia

    en.wikipedia.org/wiki/Lysosomal_storage_disease

    Lysosomal storage diseases (LSDs; / ˌ l aɪ s ə ˈ s oʊ m əl /) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. [ 1 ] [ 2 ] Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.

  3. Alpha-mannosidosis - Wikipedia

    en.wikipedia.org/wiki/Alpha-mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, [1] first described by Swedish physician Okerman in 1967. [2] In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.

  4. Mucolipidosis type IV - Wikipedia

    en.wikipedia.org/wiki/Mucolipidosis_type_IV

    Mucolipidosis type IV (ML IV, ganglioside sialidase deficiency, or ML4) is an autosomal recessive lysosomal storage disorder.Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations.

  5. Beta-mannosidosis - Wikipedia

    en.wikipedia.org/wiki/Beta-mannosidosis

    Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, [5] is a disorder of oligosaccharide metabolism caused by decreased activity of the enzyme beta-mannosidase. This enzyme is coded for by the gene MANBA, located at 4q22-25. Beta-mannosidosis is inherited in an autosomal recessive manner. [5]

  6. Inborn errors of metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of_metabolism

    Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.

  7. Schindler disease - Wikipedia

    en.wikipedia.org/wiki/Schindler_disease

    Schindler disease, also known as Kanzaki disease and alpha-N-acetylgalactosaminidase deficiency, is a rare disease found in humans.This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA (alpha-N-acetylgalactosaminidase), attributable to mutations in the NAGA gene on chromosome 22, [1] [2] which leads to excessive lysosomal accumulation of glycoproteins. [3]

  8. Galactosialidosis - Wikipedia

    en.wikipedia.org/wiki/Galactosialidosis

    Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. [2] It is caused by a mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuraminidase.

  9. I-cell disease - Wikipedia

    en.wikipedia.org/wiki/I-cell_disease

    Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), [1] [2] is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus). This enzyme transfers phosphate to mannose residues on specific proteins.