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Specialty. Endocrinology. Neuronal ceroid lipofuscinosis is a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. [ 1 ] These lipopigments are made up of fats and proteins.
Mucopolysaccharidosis. Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue.
Fucosidosis. Fucosidosis is a rare lysosomal storage disorder [2] in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. [3] The result is a buildup of complex sugars in parts of the body, which leads to death. Fucosidosis is one of nine identified glycoprotein storage diseases.
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.
Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins (sugar-containing proteins), or so-called mucopolysaccharides. Individually, lysosomal storage diseases occur with incidences of less than 1:100,000; however, as a group ...
MPS, a type of lysosomal storage disease, is typed I through VII. Type I is known as Hurler syndrome and type I,S is known as Scheie syndrome , which has a milder prognosis compared to Hurler's. In this syndrome, glycosaminoglycans accumulate in the lysosomes and cause substantial disease in many different tissues of the body.
Gaucher's disease is the most common of the lysosomal storage diseases. [2] It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids. [3] The disease is named after the French physician Philippe Gaucher, who originally described it in 1882. [4]
Specialty. Endocrinology. Chédiak–Higashi syndrome[ 1 ] (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, [ 2 ] which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.