Genetic counselling of Mucopolysaccharidosis type III: case report and literature review

Mucopolysaccharidosis type III (MPSIII), or Sanfilippo syndrome is a lysosomal storage disease with neurological manifestations in affected children. It is heterogeneous diseases in all aspect; prevalence, clinical presentation, biochemistry and causative mutations. There are four biochemical forms of this disease: MPSIIIA, B, C, and D which each one has a different gene and involving enzyme. Molecular genetics and enzyme activity assay has been used to diagnosis of MPS and recently next generation sequencing technique has been used by some researcher. Here we report the family with two affected child which has been diagnosis by enzyme function analysis and counseling challenges for prenatal diagnosis in this family.

Keywords: Mucopolysaccharidosis; Enzyme activity test; Prenatal diagnosis