Sanfilippo disease

He W, Voznyi YV, Boer AM, Kleijer WJ, van Diggelen OP (1993) A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS HID). J Inherit Metab Dis 16 935-941... 

The Sanfilippo disease type A (MPS III) corrective factor is a heparan N-sulfatase. However, as is true for many other metabolic diseases, the same symptoms... 

O Brien, J. S., Miller, A. L., Loverde, W. A., and Veath, M. L., 1973, Sanfilippo disease type B Enzyme replacement and metabolic correction in cultured fibroblasts. Science 181 753. 

F-1) The mucopolysaccharidoses are proteoglycan disorders that generally result from a hereditary lysosomal defect in enzymes that normally degrade mucopolysaccharides (in most cases heparan sulfate and dermatan sulfate). This leads to the accumulation of different mucopolysaccharides, which may be associated with a variety of different findings, commonly including mental retardation and various skeletal abnormalities. These diseases include Hunter disease, Hurler and Scheie disease, I-cell disease , Maroteaux-Laury disease, Morquio syndrome, Mucolipidoses VH disease, multiple sulfatase deficiency, and Sanfilippo A and B diseases, which will not be elaborated on further here. Often these conditions can be detected in advance on amniocentesis. 

Haemophilia Hypercholesterinaemia Hyperlipoproteinaemia II Niemann-Pick disease Oxalosis Porphyria Reye s disease Sanfilippo s syndrome Sickle cell anaemia Thalassaemia (P)... 

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.]... 

Kresse, H., Mucopolysaccharidosis III A (Sanfilippo A disease)r[Pg.195]

Schmidt, R., Von Figura, K., Paschke, E., and Kresse, H., Sanfilippo s disease type A Sul-famidase activity in peripheral leukocytes of normal, heterozygous and homozygous individuals. Clin. Chim. Acta 80, 7-15 (1977). 

F4. Figura, K. von., Logering, M., Mersmann, G., and Kresse, H., Sanfilippo B disease Serum assays for detection of homozygous and heterozygous individuals in three families. J. Pediat. 83, 607-611 (1973). 

Saccharopinuria Salla disease Sandhoff disease Sanfilippo syndrome, type A Sanfilippo syndrome, type B... 

Sanfilippo syndrome, type C Sanfilippo syndrome, type D Santavuori disease Saposin B deficiency Sarcosine dehydrogenase deficiency Scheie syndrome Schindler disease Segawa disease... 

III Polydystrophic oligophrenia, Sanfilippo s disease Autosomal recessive Minor somatic changes, severe mental retardation Heparitin sulfate... 

Sanfilippo, S. j., j. Yunis, and H. G. Worthen An unusual storage disease resembling the Hunter-Hurler-Syndrome. Amer. J. Dis. Child. 104, 553 (1962). 

In the ScHEiE-syndrome clouding of the corneae is present along with stiff joints, and coarse facial features as in the Hurler-Hunter and Sanfilippo syndromes, but the mental retardation is missing. In the urine chondroitin B-sulfate is found. The disease also appears to be autosomal recessively inherited. 

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