Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
GJG Ruijter, MJ Valstar, JM van de Kamp… - Molecular genetics and …, 2008 - Elsevier
Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage
disorder caused by deficiency of the lysosomal enzyme acetyl-CoA: α-glucosaminide N-
acetyltransferase (HGSNAT). We performed a clinical study on 29 Dutch MPS IIIC patients
and determined causative mutations in the recently identified HGSNAT gene. Psychomotor
development was reported to be normal in all patients during the first year of life. First clinical
signs were usually noted between 1 and 6 years (mean 3.5 years), and consisted of delayed …
disorder caused by deficiency of the lysosomal enzyme acetyl-CoA: α-glucosaminide N-
acetyltransferase (HGSNAT). We performed a clinical study on 29 Dutch MPS IIIC patients
and determined causative mutations in the recently identified HGSNAT gene. Psychomotor
development was reported to be normal in all patients during the first year of life. First clinical
signs were usually noted between 1 and 6 years (mean 3.5 years), and consisted of delayed …