Tag: organ enlargement
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.…
Infantile Gaucher Disease
Infantile Gaucher Disease Definition and Description of Infantile Gaucher Disease Infantile Gaucher Disease is a rare genetic disorder that primarily affects infants and continues into childhood. It is caused by a deficiency of the enzyme glucocerebrosidase, which is essential for breaking down a type of fat called glucocerebroside. The accumulation of this fat in various…