What is the cause of Hunter syndrome?
Hunter syndrome is caused by a defective chromosome, and a child must inherit the defective chromosome to develop the disease. Hunter syndrome is what’s known as an X-linked recessive disease, which means that women carry the defective disease-causing X chromosome and can pass it on.
Who discovered Hunter’s syndrome?
MPS II is a mucopolysaccharide disease known as Hunter syndrome. It takes its name from Charles Hunter, the professor of medicine in Manitoba, Canada, who first described two brothers with the disease in 1917.
What happens in Hunter syndrome?
Hunter syndrome is a rare, inherited disorder in which the body does not properly digest (break down) sugar molecules in the body. When these molecules build up in organs and tissues over time, they can cause damage that affects physical and mental development and abilities. The disorder almost always occurs in boys.
What type of doctor treats Hunter syndrome?
Research is under way to find effective treatments for boys with severe Hunter syndrome. Treating the symptoms. Because so many different parts of your child’s body can be affected, you’ll probably need to see several doctors to help you manage the condition, including: Cardiologist: a heart specialist.
How is Hunter syndrome diagnosed?
A definitive diagnosis of Hunter syndrome is made by measuring iduronate-2-sulfatase (I2S) activity. This can be done by taking blood and testing the I2S activity in serum or white blood cells, or by taking a skin biopsy and testing the I2S activity in skin fibroblasts.
When is Hunter syndrome diagnosed?
A diagnosis of Hunter syndrome is usually suspected in young people who display signs and symptoms of the condition. Characteristic changes in the facial features provide the main initial warning that a child may have Hunter syndrome. In most cases, the diagnosis is usually made at around 2 to 4 years of age.
Is there a cure for Hurler syndrome?
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. Aldurazyme is the first and only FDA approved ERT treatment developed through recombinant DNA technology for individuals with MPS I.
Is MPS fatal?
In the most severe cases of MPS I, death usually occurs by age 10 although some patients may have a normal life span. Clinical symptoms are heterogeneous and are progressively limiting in nature. A few examples of disease progression include: Cardiovascular disease is common in patients with MPS I.
What illness is MPS?
Mucopolysarcharidosis type I (MPS I) is a rare, inherited disorder. MPS I is also known as Hurler syndrome. Children with Hurler syndrome have an abnormal accumulation of complex sugars in their cells, which affects many of the systems in their bodies.
Is mucopolysaccharidosis a neurological disease?
MPS III, Sanfilippo syndrome, is marked by severe neurological symptoms. These include progressive dementia, aggressive behavior, hyperactivity, seizures, some deafness and loss of vision, and an inability to sleep for more than a few hours at a time. This disorder tends to have three main stages.
What enzyme is missing in MPS?
All individuals with MPS I have an absence of, or insufficient levels of, the enzyme alpha-L-iduronidase, which is needed to break down glyclosaminoglycans. Children with MPS l often show no symptoms at birth but they develop complications after the first year of life.
Whats is mps1?
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe.
When was mucopolysaccharidosis discovered?
The syndrome was first described by the Canadian physician Charles Hunter in 1917 [3], following the clinical observation of two brothers, which was later recognized as MPS II.