mucopoliszacharidózisok

Mucopolysaccharidosis (MPS) refers to a group of inherited metabolic disorders characterized by the defective breakdown of glycosaminoglycans (GAGs), also known as mucopolysaccharides. These large sugar molecules accumulate in tissues and organs, leading to progressive damage and dysfunction. The condition is caused by mutations in genes responsible for producing lysosomal enzymes required for GAG degradation, resulting in their excessive storage within cells.

There are eleven known types of MPS, each associated with a specific enzyme deficiency and varying clinical presentations. Symptoms typically include coarse facial features, skeletal abnormalities, organ enlargement (such as the liver and spleen), developmental delays, and potential complications involving the heart, eyes, and respiratory system. Some forms, like MPS I (Hurler syndrome), are severe and life-threatening, while others, such as MPS II (Hunter syndrome), may have milder progression depending on the genetic mutation.

Diagnosis often involves enzymatic testing, genetic analysis, or biochemical screening of urine for elevated GAG levels. Treatment options vary and may include enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), and supportive care to manage symptoms. ERT aims to replace the deficient enzyme, while HSCT can restore enzyme production in certain cases. Emerging therapies, such as gene therapy and substrate reduction therapy, are also being explored for potential future treatments.

MPS is inherited in an autosomal recessive manner, meaning a child must inherit two mutated gene copies—one from each parent—to develop the condition. Carrier screening and prenatal testing are available for families with a known history of MPS. Early diagnosis and intervention can help mitigate disease progression and improve quality of life for affected individuals. Research continues to advance understanding and treatment options for mucopolysaccharidosis.