mucopolüsahharidoose

Mucopolysaccharidoses are a group of rare genetic disorders that affect the body's ability to break down and recycle mucopolysaccharides, which are complex sugar molecules. These molecules are essential components of connective tissues, bones, cartilage, and skin. When mucopolysaccharides are not properly broken down, they accumulate in cells and tissues throughout the body, leading to progressive damage.

There are several types of mucopolysaccharidoses, each caused by a deficiency in a specific enzyme. These disorders are inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the faulty gene, one from each parent, to be affected. Symptoms vary depending on the specific type and severity of the disorder but can include skeletal abnormalities, intellectual disability, vision and hearing loss, heart problems, and enlarged organs.

Diagnosis typically involves a physical examination, medical history, and laboratory tests that measure the levels of mucopolysaccharides in urine or blood. Enzyme assays can identify the specific enzyme deficiency. Treatment focuses on managing symptoms and improving quality of life, and may include enzyme replacement therapy, bone marrow transplantation, or supportive care. While there is no cure for mucopolysaccharidoses, early diagnosis and intervention can significantly impact the progression of the disease.