mukopolisacharydozach

Mucopolysaccharidosis (MPS) refers to 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 undigested GAGs accumulate in lysosomes, leading to progressive damage in various tissues and organs throughout the body.

There are eleven known types of MPS, each caused by a deficiency in a specific lysosomal enzyme. The most common forms 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 progressive neurological deterioration in some forms.

MPS is typically inherited in an autosomal recessive pattern, meaning a child must inherit two copies of the defective gene—one from each parent—to develop the disorder. Diagnosis is usually confirmed through genetic testing, enzyme assays, or biochemical analysis of GAGs in urine. Treatment options include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and supportive care to manage symptoms. ERT involves regular intravenous infusions of the missing enzyme to reduce GAG accumulation, while HSCT aims to restore enzyme production through transplanted stem cells.

Early diagnosis and intervention can help slow disease progression and improve quality of life. Research continues to explore emerging therapies, such as gene therapy and substrate reduction therapy, to address the underlying causes of MPS. Awareness and genetic counseling play crucial roles in managing the condition and supporting affected individuals and families.