Tag: Scheie syndrome

  • MPS I

    MPS I: Definition and Description of MPS I: MPS I, or Mucopolysaccharidosis Type I, is a rare genetic disorder resulting from the deficiency of an enzyme known as alpha-L-iduronidase. This enzyme deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various tissues and organs, causing progressive cellular damage. The condition encompasses a range of symptoms…

  • Mucopolysaccharidosis Type I

    Mucopolysaccharidosis Type I: Definition and Description of Mucopolysaccharidosis Type I: Mucopolysaccharidosis Type I (MPS I) is a rare genetic disorder resulting from a deficiency of the enzyme alpha-L-iduronidase. This deficiency leads to the accumulation of glycosaminoglycans (GAGs), which are long chains of sugar molecules that are essential for various bodily functions. The excessive buildup of…