|
|
Hurler Syndrome (MPS IH) is caused by a deficiency in the enzyme a-L-iduronidase which leads to the faulty degradation of dermatan and heparan sulfate and the storage of excess glycosaminoglycan in connective tissues. The disease is characterized by dwarfism, hunchback, extremely coarse facial features, mental retardation, clouding of the cornea and deafness, enlarged organs, noisy respiration, cardiac abnormalities, and enlarged tongue. There is a protuberant abdomen, umbilical and inguinal hernias, coronary artery thickening, angina pectoris, decreased joint mobility and frequent chest infections. Onset typically takes place in infants aged six to twelve months. An affected child may appear normal through the first year of life and then the head may be noticed to be becoming abnormally large. Occurrence is one in approximately 10,000 for both sexes and the affected child usually dies before 10 years of age. The disease is similar to Scheie Syndrome (MPS IS) and Hunter Syndrome (MPS II), though more severe. First observed in 1900, Hurler Syndrome was previously known as gargoylism (because of the gross facial disfiguration) and lipochondrodystrophy. |