Morquio syndrome, also known as Mucopolysaccharidosis type IV (MPS IV), is a rare inherited metabolic disorder that belongs to a group of diseases called lysosomal storage disorders. It is characterized by the deficiency or malfunctioning of enzymes responsible for breaking down sugar molecules called glycosaminoglycans (GAGs). Specifically, Morquio syndrome affects the enzymes N-acetyl-galactosamine-6-sulfatase (MPS IV A) or beta-galactosidase (MPS IV B), resulting in the accumulation of undegraded GAGs in the body's cells and tissues.
This progressive condition primarily affects skeletal development and frequently leads to various skeletal abnormalities such as short stature, unequal bone growth, spinal deformities, and hip dysplasia. Other common symptoms include thickened skin, facial abnormalities, joint stiffness, limited mobility, dental problems, hearing loss, respiratory complications, and potential damage to various organs. The severity and combination of symptoms can vary widely among affected individuals.
Morquio syndrome is an autosomal recessive genetic disorder, meaning that an individual must inherit two defective genes - one from each parent - to develop the condition. The disease is typically diagnosed based on clinical signs, symptoms, physical examination, and specialized laboratory tests.
Although Morquio syndrome presently has no cure, management focuses on alleviating symptoms, promoting mobility, and addressing the individual's specific needs. Treatment options may include surgical interventions to correct skeletal abnormalities, physical therapy, respiratory support, hearing aids, dental care, pain management, and medical monitoring to prevent complications. Due to the progressive nature of the disorder, early diagnosis and comprehensive, multidisciplinary care are crucial in providing the best possible quality of life for individuals affected by
