Mucopolysaccharidosis type IV-A

Mucopolysaccharidosis type IV-A, also known as Morquio A syndrome, is a rare, autosomal recessive lysosomal storage disease caused by pathogenic variants in the *GALNS* gene This genetic defect results in a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase, leading to the progressive accumulation of the glycosaminoglycans keratan sulfate and chondroitin-6-sulfate predominantly in bone, cartilage, and connective tissues

Mucopolysaccharidosis type IV-A, also known as Morquio A syndrome, is a rare, autosomal recessive lysosomal storage disease caused by pathogenic variants in the *GALNS* gene The condition primarily impacts the pediatric-onset skeletal system and manifests as severe systemic skeletal dysplasia, including marked short stature with a disproportionately short trunk, kyphoscoliosis, chest deformities, joint hypermobility, and life-threatening atlantoaxial instability with cervical myelopathy Addition...

Mucopolysaccharidosis type IV-A, also known as Morquio A syndrome, is a rare, autosomal recessive lysosomal storage disease caused by pathogenic variants in the *GALNS* gene This genetic defect results in a deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase, leading to the progressive accumulation of the glycosaminoglycans keratan sulfate and chondroitin-6-sulfate predominantly in bone, cartilage, and connective tissues

The condition primarily impacts the pediatric-onset skeletal system and manifests as severe systemic skeletal dysplasia, including marked short stature with a disproportionately short trunk, kyphoscoliosis, chest deformities, joint hypermobility, and life-threatening atlantoaxial instability with cervical myelopathy Additional non-skeletal complications often involve corneal clouding, sensorineural or conductive hearing loss, restrictive pulmonary disease, and cardiac valve dysfunction, typicall...

The condition primarily impacts the pediatric-onset skeletal system and manifests as severe systemic skeletal dysplasia, including marked short stature with a disproportionately short trunk, kyphoscoliosis, chest deformities, joint hypermobility, and life-threatening atlantoaxial instability with cervical myelopathy Additional non-skeletal complications often involve corneal clouding, sensorineural or conductive hearing loss, restrictive pulmonary disease, and cardiac valve dysfunction, typicall...