The use of GAITRite® in the evaluation of paediatric patients with Niemann-Pick disease type C

Abstract

degradation of heparan sulphate results clinically in mucopolysaccharidosis type III (MPS III) syndrome. It has been suggested that the neurological phenotype is similar across all subtypes (1). However, more recently this has been questioned (2). The recent potential therapies under development for sub-types A and B highlight the need to understand better any significant clinical differences between these conditions. We have looked at the age of diagnosis of 24 MPS III A (heparan sulphatase deficiency) and compared them with 16 MPS III B (N-acetyl-α-D-glucosamidase deficiency) children reviewed at one centre between 1990 and 2012. Enzymatic and mutational analysis was examined in order to review possible genotype/phenotype correlations. Since all children were evaluated through the same healthcare system then differences in age at diagnosis would suggest a different clinical phenotype. 1)Valstar MJ, Ruijter G, van Diggelen O.P et al Sanfilippo syndrome: A minireview J Inherit Metab Dis (2008) 31:240-252 2)Valstar MJ, Bruggenwirth HT, Olmer R et al mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype J Inherit Metab Dis (2010) 33:759-767.