MPS IV B, also known as Morquio B syndrome, is a rare genetic disorder that falls under the category of mucopolysaccharidosis (MPS) type IV. It is an inherited metabolic condition caused by a deficiency of an enzyme called beta-galactosidase. This enzyme is responsible for breaking down certain molecules called glycosaminoglycans (GAGs) in the body.
In individuals affected by MPS IV B, the lack or malfunctioning of the beta-galactosidase enzyme leads to the accumulation of GAGs in different tissues and organs, resulting in progressive and widespread damage. This build-up primarily affects skeletal development, causing abnormalities in the bones, joints, and growth.
Children with MPS IV B typically display symptoms such as short stature, short neck, enlarged liver and spleen, coarseness in facial features, and a tendency to develop skeletal deformities like scoliosis. The disorder can also affect various organ systems, leading to hearing loss, heart valve abnormalities, respiratory complications, and cognitive impairment in severe cases.
Due to the complexity and variability of symptoms, MPS IV B is often challenging to diagnose. Early recognition and intervention are crucial for optimal management, as supportive care and treatment options are available to alleviate specific symptoms and improve quality of life. These can include enzyme replacement therapy to replace the deficient enzyme, orthopedic interventions for skeletal abnormalities, and regular monitoring of affected organ systems.
Overall, MPS IV B is a rare genetic disorder characterized by a deficiency of beta-galactosidase enzyme leading to the accumulation of GAGs and subsequent complications primarily affecting skeletal development.
