ásából

Asabol is a rare genetic disorder that affects the skeletal system. It is characterized by a deficiency in the enzyme arylsulfatase B, which is crucial for the breakdown of certain complex carbohydrates in the body. This deficiency leads to the accumulation of these carbohydrates in various tissues, particularly in bone and cartilage.

The symptoms of asabol can vary widely in severity, but commonly include short stature, joint laxity, and skeletal deformities. Individuals may experience recurrent joint dislocations, scoliosis, and abnormal bone development. Other potential manifestations include hearing impairment, heart valve problems, and intellectual disability, although these are less frequent.

Diagnosis of asabol is typically made through biochemical testing that measures arylsulfatase B activity and genetic analysis to identify mutations in the ARSB gene. Currently, there is no cure for asabol, and treatment focuses on managing symptoms and improving quality of life. This may involve physical therapy, orthopedic interventions, and supportive care. Research into enzyme replacement therapy and gene therapy is ongoing. The condition is inherited in an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated gene, one from each parent, to be affected.