The laboratory diagnosis of Sanfilippo disease.
The biochemical findings in 29 patients with Sanfilippo disease are reported and a scheme for laboratory diagnosis is outlined. A grossly elevated urinary excretion of heparan sulphate was a consistent and diagnostic finding, even at birth. The excretion of heparan sulphate and chondroitin sulphate was quantitatively similar in types A and B of the condition. Modifications of previously described methods for the determination of heparin sulphamidase in leucocytes or skin fibroblasts and N-acetyl-alpha-D-glucosaminidase in plasma or fibroblasts facilitated the measurement of specific activities. Sanfilippo A disease appeared to be the commonest mucopolysaccharidosis occurring in England and Sanfilippo B disease, one of the rarest forms.
D000118:Acetylglucosaminidase / Q000097:blood; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004796:Clinical Enzyme Tests; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006025:Glycosaminoglycans / Q000652:urine; D006497:Heparan Sulfate; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis*; D013429:Sulfatases / Q000652:urine
D000118:Acetylglucosaminidase; D006025:Glycosaminoglycans; D006497:Heparan Sulfate; D013429:Sulfatases