Hurler Syndrome

Hurler Syndrome

Hurler's syndrome (hoor-lerz) n. a hereditary disorder caused by deficiency of an enzyme that results in the accumulation of protein–carbohydrate complexes and fats in the cells of the body. This leads to severe mental retardation, enlargement of the liver and spleen, heart defects, deformities of the bones, and coarsening and thickening of the facial features (gargoylism). Medical name: muco-polysaccharidosis type I. [ G. Hurler (1889–1965), Austrian paediatrician] Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), Hurler's disease, also gargoylism, is a genetic disorder that results in the buildup of glycosaminoglycans (formerly known as mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of muco-polysaccharides in lysosomes. Without this enzyme, a buildup of heparan sulfate and dermatan sulfate occurs in the body. Symptoms appear during childhood and early death can occur due to organ damage. MPS I is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the enzyme α-L-iduronidase. MPS I H or Hurler syndrome is the most severe of the MPS I subtypes. The other two types are MPS I S or Scheie syndrome and MPS I H-S or Hurler-Scheie syndrome.

Hurler Syndrome

Hurler Syndrome

Hurler Syndrome

Hurler Syndrome

Hurler Syndrome

Hurler Syndrome

Hurler Syndrome

Hurler Syndrome

Hurler Syndrome