Tag: diagnosis of MPS II

  • MPS II

    MPS II: Definition and Description of MPS II: MPS II, also known as Hunter syndrome, is a rare genetic disorder categorized under mucopolysaccharidosis. It arises from a deficiency of the enzyme iduronate-2-sulfatase (I2S), which is critical for the breakdown of glycosaminoglycans (GAGs). This enzyme deficiency leads to an accumulation of GAGs in various tissues and…

  • Mucopolysaccharidosis Type II

    Mucopolysaccharidosis Type II: Definition and Description of Mucopolysaccharidosis Type II: Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare genetic disorder that falls under the category of lysosomal storage diseases. It is caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S), which plays a crucial role in breaking down glycosaminoglycans (GAGs).…