Mucopolysaccharidosis Type I Scheie syndrome
Mucopolysaccharidosis Type I Scheie syndrome Causes
Indiciduals with Scheie syndrome have an absence of a substance called lysosomal-alpha-L-iduronidase. This substance is an enzyme that helps break down long chanins of sugar molecules. Said molecules are found throughout the body, often in mucus and in fluid around the joints. When the sugar molecules build up it can damage the organs.
Mucopolysaccharidosis Type I Scheie syndrome Definition
Mucopolysaccharidosis Type I or Scheie syndrome is an inherited disease of metabolism in which the body cannot properly break down long chains of sugar molecules called glycosaminoglycans. Belonging to the group of disease called mucopolysaccharidosis, it is specifically known as MPS I S.
Mucopolysaccharidosis Type I Scheie syndrome Diagnosis
Physical examination may reveal signs of aortic regurgitation, hearing loss, inguinal or umbilical hernia, liver swelling. Eye exam and urine tests are also conducted to come up with a definitive diagnosis.
Mucopolysaccharidosis Type I Scheie syndrome Symptoms and Signs
Symptoms of MPS I S may not appear until age 4 or 5. They may include coarsened facial features, increased body hair or hirsutism, broad mouth with full lips, cloudy cornea, prognathism, stiff joints, claw hands, and deformed feet.
Mucopolysaccharidosis Type I Scheie syndrome Treatment
Enzyme replacement is already possible for patients with such conditions. Permanent nerve damage can be prevented by early recognition and treatment of spinal cord compression.