Clinical and hearing function assessment among children with mucopolysacchridosis attending Alexandria university children hospital

Mucopolysaccharidosis (MPS) is a genetic, progressive and clinically heterogeneous disorder that usually involves multiple body systems due to the deficiency of one enzymes play role in metabolism glycosaminoglycans (GAGs), which accumulates lysosomes organs. It wide spectrum clinical manifestations. Hearing dysfunction well known association found most patients with can’t be underestimated as children acquire language basically by hearing what being said those around them, good involved development speech socialization. Aim workThis work aimed at characterization MPS cases attending genetics clinic Alexandria University Children Hospital, enzymatic genetic diagnosis detailed evaluation their function.Subjects methodsThis descriptive cross sectional study was conducted on seventy-five confirmed different types diagnosed Hospital from year 2010 till 2020.