The incidence of Hurler syndrome is approximately 1 in 100,000 births. [1]
Male and female children are equally affected
. All races and ethnicities are at risk of inheriting the disease.
Is Hurler syndrome hereditary?
This condition is
genetic
and is inherited in an autosomal recessive pattern, which means that an affected child has received one defective copy of the IDUA from each parent.
Who can get Hurler syndrome?
Symptoms of MPS I most often appear
between ages 3 to 8
. Children with severe MPS I develop symptoms earlier than those with the less severe form. Some of the symptoms include: Abnormal bones in the spine.
Is Hurler syndrome dominant or recessive?
Hurler syndrome has an
autosomal recessive
pattern of inheritance.
How can Hurler syndrome be prevented?
Enzyme replacement therapy (ERT) with laronidase
is recommended for all Hurler patients and is a lifelong therapy which alleviates non neurological symptoms. The early use of ERT has been shown to delay or even prevent the development of some of the clinical features of this condition.
Is Hurler syndrome curable?
There is no cure
but treatments such as bone marrow transplantation and/or enzyme replacement therapy (ERT) can help make MPS I a more manageable disease.
Is Hurler syndrome fatal?
If untreated, patients with Hurler syndrome experience progressive deterioration of the musculoskeletal, cardiorespiratory, and central nervous systems, leading
to death before age 10 years
[1].
What is the life expectancy of someone with MPS?
The life expectancy of these individuals is
10 to 20 years
. Individuals with mild MPS II also have a shortened lifespan, but they typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.
What is the life expectancy of a child with Hurler syndrome?
For example, individuals with the mildest form of MPS I (MPS IS) may have a reasonably normal lifespan, while those with intermediate (MPS IH/S) usually live to teen age or early adulthood. Those with severe MPS I (MPS IH or Hurler syndrome)
rarely live longer than 10 years
.
What is the life expectancy of a child with Hunter syndrome?
No cure is available for Hunter syndrome. The most severe cases can be life-threatening, with life expectancy typically
between 10 and 20 years
. People with mild cases of the disease typically live longer into adulthood.
Is mucopolysaccharidosis inherited?
MPS I is caused by variations (AKA mutations or pathogenic sequence variants) in the IDUA gene and is
inherited in an autosomal recessive pattern
. Therefore, both parents of every affected MPS I individual are carriers of MPS I.
Are you born with Gaucher’s disease?
Find out more about Gaucher disease inheritance and genetics and which mutations are most severe. When both parents are carriers,
each pregnancy has a 1 in 4 chance that the baby will be born with the disease
. People with Gaucher disease carrier status do not have signs or symptoms.
How is Hurler Syndrome diagnosed?
Diagnosis is based on
detection of increased urinary excretion of heparan and dermatan sulfate and confirmed by demonstration of enzymatic deficiency in leukocytes or fibroblasts
. Genetic testing is available.
What causes Hurler syndrome?
Hurler syndrome is an inherited condition caused
by a faulty gene
. Children with Hurler syndrome lack an enzyme that the body needs to digest sugar. As a result, undigested sugar molecules build up in the body, causing progressive damage to the brain, heart, and other organs.
What causes Sialidosis?
Sialidosis is caused by
mutations of the NEU1 gene
. This gene mutation is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
What are the symptoms of MPS?
MPS III (also called Sanfilippo syndrome) is marked by severe neurological symptoms that include
progressive dementia, aggressive behavior, hyperactivity, seizures, some deafness and vision loss, and an inability to sleep for more than a few hours at a time
.
