Enhanced degradation of synaptophysin by the proteasome in mucopolysaccharidosis type IIIB. Vitry S, Ausseil J, Hocquemiller M, Bigou S, Dos Santos Coura R, Heard JM. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Valstar MJ, Neijs S, Bruggenwirth HT, Olmer R, Ruijter GJ, Wevers RA, et al. Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients. Ouesleti S, Brunel V, Ben Turkia H, Dranguet H, Miled A, Miladi N, et al. Characterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIIC. 46(6):407-10.įan X, Tkachyova I, Sinha A, Rigat B, Mahuran D. Zhang WM, Shi HP, Meng Y, Li BT, Qiu ZQ, Liu JT. Other types of mucopolysaccharidoses are discussed in separate articles (see Differentials). Each enzyme deficiency defines a different subtype of Sanfilippo syndrome, as follows: type IIIA (Sanfilippo A), type IIIB (Sanfilippo B), type IIIC (Sanfilippo C), and type IIID (Sanfilippo D). Sanfilippo syndrome results from the deficiency or absence of 4 different enzymes that are necessary to degrade the GAG heparan sulfate. Mucopolysaccharidosis III is considered the most common of these genetic disorders, occurring with an incidence of 1 in 70,000 newborns. In 1963, mucopolysaccharidosis III, also now known as Sanfilippo syndrome, was described at the American Pediatric Society Annual Meeting by pediatrician, Sylvester Sanfilippo. The incidence of individual types of lysosomal storage disease is rare however, the estimated combined incidence of all types of mucopolysaccharidoses is 1 in 20,000 live births. Severe neurological impairment also occurs and is usually associated with Hurler syndrome (mucopolysaccharidosis IH), Hunter syndrome (mucopolysaccharidosis II), and Sanfilippo syndrome (mucopolysaccharidosis III). Without the proper enzymatic degradation of the mucopolysaccharides, clinical symptoms, such as auditory and visual defects, cardiovascular pathologies, hepatosplenomegaly, and dysostosis multiplex, occur due to their accumulation in organ systems. Each lysosomal storage disorder is associated with a defined enzymatic deficiency, although as a group, these disorders share many clinical features. Mucopolysaccharidosis V is defined as a form of type I and is known as mucopolysaccharidosis IS. The mucopolysaccharidoses comprise a group of 8 metabolic disorders, known as mucopolysaccharidoses types I-IV, VI, VII, and IX and mucolipidosis (ML types II and III). These complex carbohydrates, also known as mucopolysaccharides or glycosaminoglycans (GAGs), serve as the building blocks for connective tissues in the body. Lack of these enzymes allows for the accumulation of complex carbohydrates in the body's cells and tissues and in the cellular organelles, the lysosomes. The mucopolysaccharidoses (MPSs) are a rare group of inherited lysosomal storage disorders that are caused by the deficiency or absence of specific lysosomal enzymes.
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