Mucopolysaccharidosis Type IV-A (Morquio A Syndrome)
Mucopolysaccharidosis type IV-A (MPS IV-A), also known as Morquio A syndrome, is a rare lysosomal storage disorder caused by a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). This enzyme is essential for breaking down glycosaminoglycans (GAGs), specifically keratan sulfate and chondroitin-6-sulfate. The accumulation of these substances leads to progressive skeletal abnormalities and systemic complications. What is