mucopolysackarider

Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders characterized by the defective activity of enzymes responsible for breaking down long chains of sugar molecules called glycosaminoglycans (GAGs), also known as mucopolysaccharides. These GAGs accumulate in various tissues, leading to progressive damage and dysfunction in multiple organs and systems.

There are at least 11 known types of MPS, each caused by a deficiency in a specific lysosomal enzyme. The most common types include MPS I (Hurler syndrome), MPS II (Hunter syndrome), MPS III (Sanfilippo syndrome), MPS IV (Morquio syndrome), and MPS VI (Maroteaux-Lamy syndrome). Symptoms vary depending on the type but often include coarse facial features, skeletal abnormalities, organ enlargement, developmental delays, and potential neurological impairment.

MPS are typically inherited in an autosomal recessive pattern, meaning a child must inherit two defective gene copies—one from each parent—to develop the condition. Diagnosis is usually confirmed through genetic testing, enzyme assays, or biochemical analysis of GAGs in urine or blood. Early diagnosis is crucial for initiating treatment, which may include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), or supportive care to manage symptoms.

Treatment approaches aim to slow disease progression, alleviate symptoms, and improve quality of life. ERT involves regular intravenous infusions of the missing enzyme to reduce GAG accumulation, while HSCT can restore enzyme production in some cases. Physical therapy, orthopedic interventions, and specialized medical care are also commonly employed to address skeletal, respiratory, and neurological complications.

Prognosis varies widely depending on the type and severity of MPS, as well as the timing of diagnosis and treatment initiation. Some forms, particularly those with severe neurological involvement, remain challenging to manage effectively. Research continues to explore emerging therapies, including gene therapy and substrate reduction therapy, to improve long-term outcomes for affected individuals.