The main difference between Hurler disease or Hurler syndrome and I cell disease is that I cell disease resembles Hurler disease or Hurler syndrome although symptoms of I cell disease appear earlier and the neurological deterioration is more rapid and mucopolysacchariduria is not present.
The symptoms of I cell disease are also more severe than those of Hurler disease.
I-cell disease (mucolipidosis II) is a rare inherited metabolic disorder characterized by coarse facial features, skeletal abnormalities and mental retardation.
The symptoms of I-cell disease are similar to but more severe than those of Hurler syndrome.
The causes of Hurler syndrome are a variation in the IDUA gene that contains the instructions for the production of a specific enzyme that is known as alpha-L-iduronidase which is a specialized protein that is normally found in the lysosomes of cells where it helps to break down complex sugars called glycosaminoglycans.
When a person has Hurler syndrome what happens is the person will have an unusually large head, joint stiffness, hearing and vision loss, impaired growth and some other symptoms.
The medical term for Hurler Syndrome is mucopolysaccharidosis type I.
Hurler syndrome causes hydrocephalus as a result of MPS deposition in the brain, meninges and skull as well as the diffuse T2 white matter hyperintensity, dilated pervascular spaces and J shaped sella.
The future treatments for Hurler syndrome is Gene therapy which can soon offer a new treatment option for children with Hurler Syndrome.
The type of hearing loss that is Hurler syndrome is sensorineural hearing loss.
The coarse facial features of Hurler syndrome is a broad nose with flared nostrils, large rounded cheeks, prominent supraorbital ridges, thick lips and enlarged protruding tongue that is caused by the storage of GAGs in the soft tissues of the orofacial region and facial bones that become apparent within the first 2 years.
The urine shows the presence of the specific GAGs dermatan sulfate and heparan sulfate in the urine which could indicate Hurler syndrome or Hunter syndrome.
Hurler's syndrome of the heart is when the child has deposition of glycosaminoglycans within their heart which is often the cause of the death of the child within the first 10 years of the child's life.
Hurler syndrome is treatable although there's no cure for Hurler Syndrome.
Current approaches to Hurler syndrome are tailored to specific people and can include enzyme replacement therapy, bone marrow transplant, hematopoietic stem cell transplant, and targeted symptom management.
The cause of hurlers syndrome is a variation in the IDUA gene that contains the instructions for the production of a specific enzyme that is known as alpha-L-iduronidase.
The specialized protein is most commonly found in the Lysosomes of cells which is where it helps to break down the complex sugars called glycosaminoglycans.
The symptoms of Hurler's syndrome are.
Intellectual disability which gets worse over time in severe MPS I.
Joint disease, including joint stiffness.
Heart valve problems.
Halted growth.
Deafness.
Cloudy Corneas.
Inability to fully open the fingers (Claw Hand).
Abnormal bones in the spine.
To test for hurlers syndrome the tests that are done are chorionic villus sampling and amniocentesis.
These are prenatal screening tests which can test for hurlers syndrome during pregnancy and before the baby is born.
The life expectancy of a child with Hurler syndrome is around 10 years due to the severe symptoms of the condition that affects the child's heart and lungs.
Hurler syndrome is not the same as i-cell disease although the symptoms of i-cell disease are similar to but also more severe than the symptoms of Hurler syndrome.
I-cell disease (mucolipidosis II) is a rare lysosomal storage disease, with its primary defect the deficiency of an enzyme responsible for lysosomal enzyme processing, resulting in multiple lysosomal enzyme insufficiency.
Hurler syndrome can be detected before birth through prenatal screening tests such as amniocentesis or chorionic villus sampling which can diagnose the baby with Hurler Syndrome during your pregnancy.
Both these prenatal tests will examine and determine whether or not there are any genetic abnormalities within the baby's DNA.
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.