title: The mucopolysaccaridoses: clinical and biochemical correlations.
abstract: The mucopolysaccharidoses (MPS) are hereditary diseases that result in deformities related to connective tissues. Some types of MPS lead to progressive mental retardation. Biochemically, these syndromes are characterized by excessive accumulation and excretion of various types of glycosaminoglycans (mucopolysaccharides). These diseases result from absence of various lysosomal enzymes involved in glycosaminoglycan degradation. The definition of the defects in the MPS has led to advancing diagnosis, counseling, and the possibilities of prenatal diagnosis of this group of dieseases.
mesh_terms: D000118:Acetylglucosaminidase / Q000172:deficiency; D001192:Arylsulfatases / Q000172:deficiency; D003937:Diagnosis, Differential; D005696:Galactosidases / Q000172:deficiency; D005966:Glucuronidase / Q000172:deficiency; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000201:enzymology*; D016532:Mucopolysaccharidosis II
chemical_list: D006025:Glycosaminoglycans; D001192:Arylsulfatases; D005696:Galactosidases; D005966:Glucuronidase; D000118:Acetylglucosaminidase