Handbook of Genetic Counseling/Sanfilippo syndrome

Sanfilippo syndrome Other names: Mucopolysacchardosis III, Type A, B, C, and D So, it is a syndrome in which the large saccharides are not broken down properly in the lysosomes. It's a lysosomal storage deficiency. Characteristics Most common of the MPS diseases Normal to fast growth 1-3 years. Slow growth after that. Slow development by 1-3 years then deterioration Short stature Hearing loss Poor gait Poor speech Poor behavior Synophrys (joined eyebrows) Mild cardiac involvement Clear corneas Sleep disturbances Upper respiratory tract infections Many die of pneumonia (10-20 years) Genetics Autosomal recessive in all types Sanfilippo A = defect in heparan N-sulfatase Sanfilippo B = deficiency in N-acetyl-alpha-delta glucosaminidase Sanfilippo C = deficiency of acetyl-CoA: alpha-glucosaminide-N-acetyltransferase Sanfilippo D = deficiency of N-acetyl-alpha-delta glucosaminide-6-sulfatase Diagnosis By clinical features mentioned above (same for all four types except type D) Overactivity Destructive tendencies Weakness in all extremities Presence of excess heparan sulfate in the urine Resources National MPS Society 102 Aspen Drive Downingtown, PA 19335 (610) 942-0100 http://mpssociety.org/index.htm Notes The information in this outline was last updated in 2000.