2. Definition
Also known as mucopolysaccharidosis type I (MPS
I).
An autosomal recessive inherited disease.
Cause by deficiency of alpha-L iduronidase,
an enzyme responsible for the degradation
of mucopolysaccharides in lysosomes.
3.
4. Prevalence
Hurler syndrome has an overall frequency of 1 per
100,000
Newborn infants with this defect appear normal at
birth.
By the end of the first year, signs of impending's
problem begin to develop.
5. Parent of children MPS I carry a defective IDUA gene,
which has been mapped to the 4p16.3 site on
chromosome 4.
6. Symptoms
Slow development in children occur.
Coarse, thick facial features
Prominent dark eyebrows
Progressive stiffness in joints
Mental retardation
8. Diagnosis
Diagnosis often can be made through clinical
examination and urine tests.
Enzyme assays
Amniocentesis and chorionic villus sampling can
verify if a fetus either carries a copy of the
defective gene.
Genetic counseling
9. Treatment
Enzyme replacement therapies are currently in use.
Gene therapy also considering nowadays.
Bone marrow transplantation (BMT) and umbilical
cord blood transplantation (UCBT) can be used as
treatments for MPS.
There is no cure for MPS I.