mucopolysaccharidoses
Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by the deficiency of specific enzymes needed to break down glycosaminoglycans, which are long chains of sugar molecules. This leads to the accumulation of these substances in various tissues, resulting in a range of health issues, including skeletal abnormalities, organ enlargement, and cognitive impairment.
There are several types of MPS, each associated with different enzyme deficiencies and symptoms. Common types include MPS I, MPS II, and MPS III. Early diagnosis and treatment, such as enzyme replacement therapy, can help manage symptoms and improve quality of life for affected individuals.