title: A Case of Sanfillippo's Disease Correlating Clinical and Biochemical Findings.
abstract: The mucopolysaccharidoses (MPSs) are a heterogeneous group of rare inherited disorders caused by deficiency of lysosomal enzyme necessary to break down mucopolysaccharides or glycosaminoglycans (GAGs). We had combined clinical findings and ophthalmological features. Biochemical test for urine glycosaminoglycans was done for confirmation of diagnosis in the patient. The case of Sanfillippo's disease was characterized by delayed development, hyperactivity with aggressive behaviour. Coarse facial feature, hirsutism and sleep disorder. Urine GAG tests for MPS was positive in the case. Based on clinical findings and biochemical tests for MPS, this case was diagnosed as a type III mucopolysaccharidoses. Urinary GAG's electrophoresis is an important screening test for MPS suspected cases.
authors.affiliation: Department of Biochemistry, Kasturba Medical College, Manipal, Manipal University, Manipal, 576104 Karnataka India.
authors.forename: Priyanka
authors.initials: P
authors.lastname: Datta
authors.affiliation: Department of Biochemistry, Kasturba Medical College, Manipal, Manipal University, Manipal, 576104 Karnataka India.
authors.forename: Anushre
authors.initials: A
authors.lastname: Prasad
authors.affiliation: Department of Biochemistry, Kasturba Medical College, Manipal, Manipal University, Manipal, 576104 Karnataka India.
authors.forename: Vijetha
authors.initials: V
authors.lastname: Shenoy
authors.affiliation: Department of Paediatrics, Kasturba Medical College, Manipal, Manipal University, Manipal, 576104 Karnataka India.
authors.forename: Shrikiran
authors.initials: S
authors.lastname: Hebbar
authors.affiliation: Department of Paediatrics, Kasturba Medical College, Manipal, Manipal University, Manipal, 576104 Karnataka India.
authors.forename: Suneel C
authors.initials: SC
authors.lastname: Mundkur
authors.affiliation: Department of Biochemistry, Kasturba Medical College, Manipal, Manipal University, Manipal, 576104 Karnataka India.
authors.forename: Pragna
authors.initials: P
authors.lastname: Rao
keywords: Glycosaminoglycans (GAG); Mucopolysaccharidoses (MPSs); Sanfillippo’s