Any of a group of genetic disorders, including Hurler’s syndrome, in which greater than normal levels of mucopolysaccharides accumulate in the tissue. Skeletal deformity, mental retardation, and shortened life expectancy characterize the diseases, which can be detected through amniocentesis.
A group of genetic disorders characterized by a n accumulation of unwanted substances called mucopolysaccharides in body tissues. Under normal conditions, mucopolysaccharides form a gel-like substance found in mucous secretions as well as in body cells. Mucopolysaccharide disorders result in deposits of mucopolysaccharides in the arteries, skeleton, eyes, joints, ears,
skin, and teeth. Deposits of mucopolysaccharides may also be found in the respiratory system, liver, spleen, central nervous system, and bone marrow. The buildup occurs because the underlying genetic disorder involves a deficiency of the enzymes necessary to break down mucopolysaccharides. Signs of the disorders include changes in facial appearance, mental retardation, heart failure, and shortened life expectancy. Examples of mucopoly-saccharidosisrelated disorders include Scheie syndrome. Hunter syndrome, Hurler syndrome, Sanfilippo syndrome, Maroteaux- Lamy syndrome, and Morquio disease.
A collection of uncommon hereditary metabolic conditions, with Hurler’s syndrome being the most recognized example. Mucopolysaccharidoses are genetic disorders characterized by an anomaly in a particular enzyme, leading to the buildup of substances known as mucopolysaccharides within the cells of the body.
Characteristics might encompass irregularities in the skeletal structure and/or the central nervous system, accompanied by challenges in learning and, in certain instances, a distinctive facial look. Additionally, there could be haziness of the cornea, enlargement of the liver, and rigidity in the joints.
There is no particular remedy accessible; nevertheless, a bone marrow transplant could be employed as a treatment for Hurler’s syndrome.
Less severe variations of mucopolysaccharidoses enable a child to lead a relatively typical life. Conversely, more profound forms typically result in fatality during childhood or adolescence.