Sanfilippo’s syndrome type

Stepwise degradation of heparan sulfate. The deficiency disea.ses corresponding to the numbered reactions are I = mucopolysaccharidosis (MPS) II, Hunter s syndrome 2 = MPS I, Hurler s, Scheie s, and Hurler-Scheie s syndromes 3 = MPS III A, Sanfilippo s syndrome type A 4 = MPS III C, Sanfilippo s syndrome type C 5 = MPS 111 B, Sanfilippo s syndrome type B 6 = no deficiency disease yet known 7 = MPS VII, Sly s syndrome 8 = MPS III D, Sanfilippo s syndrome type D. The schematic drawing depicts all structures known to occur within heparan sulfate and does not imply that they occur stoichiometrically. Very few of the glucuronic acid residues are sulfated. [Reproduced with permission from E. F. Neufeld and J. Muenzer. In Metabolic Basis of Inherited Disease, 7th ed., C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (Eds). McGraw-Hill, New York, 1995, p. 2468.]... 

Sanfilippo s syndrome is an inherited genetic disorder of heparan sulfate catabolism, characterized by progressive mental retardation, mild skeletal deformities, and excretion of excessive amounts of heparan sulfate in the urine (Dorfman and Matalon, 1976 McKusick, 1972). A deficiency of heparan sulfiite N-sulfohydrolase is responsible for the pathogenesis of Sanfilippo s syndrome (type A) (Kresse and Neufeld, 1972 Kresse, 1973 Hop-wood and Elliott, 1981). The patients and heterozygotes are diagnosed by estimating heparan sulfate N-sulfohydrolase activity in fibroblasts and peripheral leukocytes (Schmidt et al., 1977). 

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