Morquio syndrome, also known as mucopolysaccharidosis type IV (MPS-IV), is a rare genetic disorder that is part of a group of eleven lysosomal storage diseases known as mucopolysaccharidoses (MPS diseases). It is caused by deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS), which is responsible for the breakdown of glycosaminoglycans (GAGs) known as keratan sulfate and chondroitin-6-sulfate. Due to enzyme deficiency, these GAGs accumulate in cells, blood and tissues throughout the body, eventually causing damage. There are two types of Morquio syndrome - type A and type B. Both are caused by mutations in the GALNS gene, but they differ in their clinical features and severity.

Signs and Symptoms of Morquio Syndrome (MPS-IV) Drug Industry

Some key signs and symptoms seen in patients with Morquio Syndrome (MPS-IV) Drug include skeletal dysplasia, short stature, spinal deformity, joint abnormalities, hearing loss, corneal clouding, heart issues and lung dysfunction. Skeletal problems are usually the most visually obvious and disabling features. Due to abnormal bone growth and development, patients often have shortened upper arms and legs, flat facial features, cervical spinal instability and swayback. Severe spinal cord compression leading to paralysis is not uncommon. Valvular heart disease is also a major clinical manifestation seen in the majority of Morquio syndrome patients.

Current Treatment Options and their Limitations

Currently, treatment of Morquio syndrome involves managing symptoms through surgical interventions and supportive care. Orthopedic surgeries like spine correction and joint replacement are commonly performed to improve mobility and quality of life. Other interventions may include hearing aids, ventilation support if required, and medications to manage heart complications. While these approaches help address some clinical issues, they do not slow disease progression or correct the underlying metabolic abnormality caused by GALNS deficiency. Enzyme replacement therapy (ERT), the standard therapy for many MPS diseases, is not viable for Morquio syndrome since the recombinant enzyme cannot efficiently cross the blood-brain barrier. Hematopoietic stem cell transplantation (HSCT) has also shown limited benefit. Thus, there remains a high unmet need for effective disease-modifying treatments for this often-devastating disorder.