Tag: Hurler syndrome
MPS Disorder I
MPS Disorder I: Definition and Description of MPS Disorder I: MPS (Mucopolysaccharidosis) Disorder I, also known as Hurler syndrome or MPS I, is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is responsible for the breakdown of glycosaminoglycans (GAGs), which are long chains of sugar molecules in the body.…
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…
Mucopolysaccharidoses
Mucopolysaccharidoses: Definition and Description of Mucopolysaccharidoses: Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by the deficiency of specific enzymes necessary to break down glycosaminoglycans (GAGs), which are long chains of sugar molecules. These enzymes play a vital role in metabolism, and their deficiency leads to the accumulation of GAGs in various…
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…