Mucopolysaccharidoses
Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by the deficiency of specific enzymes needed to break down glycosaminoglycans (GAGs), which are long chains of sugar molecules. This leads to the accumulation of GAGs 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 a different enzyme deficiency, such as MPS I (Hurler syndrome) and MPS II (Hunter syndrome). Symptoms and severity can vary widely among individuals, and early diagnosis and treatment are crucial for managing the condition and improving quality of life.