A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis

Mucopolysaccharidoses(MPS)are a group of rare inborn errors of metabolism caused by defective lysosomal en-zymes which prevent cells from degrading and recycling certain carbohydrates and fats,resulting in the storage of glycosaminoglycans in cells throughout the body.This leads to multisystem abnormalities involving bone,connective tissues,brain,blood,spinal cord,skin,and other tissues.