An autosomal recessive disorder genetic condition storage disease disorder where the enzyme called enzyme, alpha -L-iduronidase is deficient or one does not have the ability to make it or its not working as it should.
These enzymes in our body cells (the part of the body cell is called lysosome) to clean up and dispose of a long chains of sugar molecules (glycosaminoglycans or GAGs) in the body otherwise unable to break down.
There are 7 sub-types of MPS disease:
MPS 1 H/S (Hurler/Scheie syndrome)
MPS I H (Hurler disease)
MPS II-(Hunter syndrome)
MPS III A, B, C, and D (Sanfillipo syndrome)
MPS I S (Scheie syndrome)
MPS IV A and B (Morquio syndrome)
MPS IX (hyaluronidase deficiency)
MPS VII (Sly syndrome)
MPS VI (Maroteaux-Lamy syndrome)
The mild, or attenuated form of MPS I is also known as Scheie syndrome or MPS I S: Children born with this form have normal intelligence and may live to adulthood.
The severe form of MPS I is known as Hurler syndrome or MPS I H (where symptoms are described below)
Problem with the IDUA gene located on chromosome 4.(which is responsible for this enzymes function)
Family history-autosomal recessive disorder (Both parents who are carriers of the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting the condition), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected)
Source: www.stanfordchildrens.org
Symptoms
Corneal clouding (eye problems)?
Short stature (dwarfism or below typical height)?
Joint pain and stiffness?
Speech problems?
Hearing problems?
Heart problems?
Common symptoms specific to Hurler syndrome (and Scheie and Hurler-Scheie syndrome) include:
Abnormal facial appearance (facial dysmorphism) described as ‘coarse’ features?
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Hurler syndrome in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
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