Morquio Disease, also known as Mucopolysaccharidosis type IV (MPS IV), is a rare genetic disorder categorized under the umbrella term of lysosomal storage disorders. It is inherited in an autosomal recessive manner, meaning that an individual must inherit two faulty copies of the responsible gene (either from both parents) to develop the condition.
This disease primarily affects the body's ability to break down and recycle specific complex carbohydrates known as glycosaminoglycans (GAGs), leading to their accumulation within various tissues and organs. These GAGs are important components of connective tissues, such as cartilage, bone, and tendons, thus causing skeletal abnormalities and impairments in growth and development.
Symptoms commonly associated with Morquio Disease include short stature, progressive skeletal dysplasia, abnormal curvature of the spine (scoliosis), joint stiffness and pain, enlarged liver and spleen, heart valve abnormalities, and impaired vision and hearing. Additionally, affected individuals may also experience respiratory difficulties, dental abnormalities, and a higher risk of developing hernias.
There are two main types of Morquio Disease, type A and type B, with each being caused by different deficiencies of enzymes involved in glycosaminoglycan metabolism. Unfortunately, there is currently no cure for Morquio Disease, and treatment focuses on managing symptoms to improve quality of life. This may include surgical interventions for skeletal abnormalities, pain management, physical and occupational therapy, and monitoring and addressing any associated complications.
Despite being a progressive and debilitating condition, advancements in research and potential therapeutic approaches, such as enzyme replacement therapy and gene therapy, offer hope for improved management and outcomes for individuals affected by Morquio Disease.
