Disease Information for Mucopolysaccharidoses (Clinical Manifestations)

MPS Mucopolysaccharidosis, Mucopolysaccharidoses, mucopolysaccharidosis, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis unspecified

Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides; The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency------------------Mucopolysaccharidoses; MPS; MPS Disorder; Subdivisions: MPS 1 H/S (Hurler/Scheie Syndrome); MPS I H (Hurler Disease); MPS I S (Scheie Syndrome); MPS II-(Hunter Syndrome); MPS III A, B, C, and D (Sanfillipo Syndrome); MPS IV A and B (Morquio Syndrome); MPS IX (Hyaluronidase Deficiency); MPS V (obsolete); MPS VI (Maroteaux-Lamy Syndrome); MPS VII (Sly Syndrome); MPS VIII (obsolete); The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders; Lysosomes function as the primary digestive units within cells; Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats; In individuals with MPS disorders, deficiency or malfunction of specific lysosomal enzymes leads to an abnormal accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth; These accumulations may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow; This accumulation eventually causes progressive damage to cells, tissues, and various organ systems of the body; There are several different types and subtypes of mucopolysaccharidosis; These disorders, with one exception, are inherited as autosomal recessive traits; [NORD]

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