The amount of people in the U.S that have Hurler Syndrome is estimated to be between 1 million to 2 million people.
Hurler syndrome occurs in 1 out of every 100,000 births so it's not very common.
The incidence of Hurler syndrome is approximately 1 in 100,000 births.
Male and female children are equally affected.
All races and ethnicities are at risk of inheriting the disease.
The reason a person with Hurler Syndrome has an enlarged abdomen is because of the excess mucopolysaccharides accumulates inside the lysosomes within the liver cells which leads to an enlarged abdomen.
The transplant for Hurler's syndrome is Allogenic transplant which is a type of transplant that uses healthy blood forming cells that are donated by someone else to replace the unhealthy ones.
The healthy cells can come from umbilical cord blood, unrelated donor or a family member.
The age that Hurler syndrome starts is between the ages of 3 to 8 years of age.
Children who have Hurler syndrome lack the enzyme that their body needs to digest sugar and as a result the undigested sugar molecules build up in the child's body and progresses to damage to the brain, heart and other organs.
Hurler syndrome is caused by a variation in the IDUA gene, which contains the instructions for the production of a specific enzyme known as alpha-L-iduronidase.
This specialized protein is normally found in the lysosomes of cells, where it helps to break down complex sugars called glycosaminoglycans (GAGs).
Hurler syndrome is also caused by a deficiency of a lysosomal enzyme, IUDA, which aids in the breakdown of dermatan sulfate and heparin sulfate (GAG).
This finally results in the accumulation of large amounts of GAG in the body, eventually causing the cells to become severely dysfunctional leading to death.
The symptoms of Hurler Syndrome are.
Abnormal bones in the spine.
Inability to fully open the fingers (claw hand)
Cloudy corneas.
Deafness.
Halted growth.
Heart valve problems.
Joint disease, including stiffness.
Intellectual disability that gets worse over time in severe MPS I.
Children with Hurler's disease may sit, walk, and develop early language skills, but soon these skills are lost.
Severe mental retardation becomes apparent, and affected children become bedridden.
Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease, which is an inherited metabolic disease.
While there is no cure for Hurler syndrome, treatment does exist.
Children with Hurler syndrome are usually not born with signs but develop symptoms during the first year of life.
Without treatment, patients with Hurler syndrome experience multisystem manifestations including mental retardation, skeletal deterioration, severe cardiopulmonary disease, hepatosplenomegaly, visual impairment, and deafness, usually leading to death within the first decade of life.
The recommended first-tier test for MPS-I is biochemical testing that measures alpha-L-iduronidase enzyme activity in blood: IDUAW / Alpha-L-Iduronidase, Leukocytes or PLSD / Lysosomal and Peroxisomal Storage Disorders Screen, Blood Spot.
Gene therapy might soon offer a new option for children with a rare genetic disorder that damages tissues throughout the body, researchers are reporting.
In a study of eight children with the condition, called Hurler syndrome, researchers found that the gene therapy was safe over two years.
Recurrent middle ear infections and hearing loss are common complications in Hurler syndrome.
Although sensorineural and conductive components occur, the mechanism of sensorineural hearing loss has not been determined.