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