PHC 429 Pharmaceutical Biochemistry

Click to edit Master subtitle style

HURLER SYNDROME

PRESENTED BY:

5/2/12

WHAT IS HURLER SYNDROME????

5/2/12

DEFINITION:

5/2/12

Three subtypes:

5/2/12

Genetics

5/2/12

 If someone is born

with one normal and one defective copy of the gene (s)he is called a carrier and will produce less -Liduronidase than an individual with two normal copies of the gene. The slightly reduced production of the enzyme in carriers, however, remains sufficient for normal function and the person 5/2/12 should not show any

Metabolism of HURLER SYNDROME

5/2/12

Sign and symptoms of Hurler Syndrome

Click to edit Master subtitle style

5/2/12

CONDITION

5/2/12

DEVELOPMENT
Developmental delay by the end of the first

year.

Patients usually stop developing between

ages 2 and 4.
Mental decline and loss of physical skills. Language may be limited. Clear layer of cornea become clouded. Retinas may begin to degenerate. Carpal tunnel syndrome and restricted joint
5/2/12

movement are common.

Children condition
Affected children may be large at birth and

appear normal.

May have inguinal or umbilical hernias. Growth in height may be initially faster than

normal, then begins to slow before the end of the first year.
Many children develop a short body trunk and

a maximum stature of less than 4 feet.

5/2/12

 Distinct facial features:

-flat face -depressed nasal bridge -bulging forehead

5/2/12

5/2/12

TREATMENT

5/2/12

Enzyme Replacement Therapy

a patient is given a drug that has the IDUA enzyme

his or her body is missing. The drug is called laronidase, or Aldurazyme. Treatment with laronidase can improve problems with breathing, growth, the bones, joints and heart. However, there is no evidence that it has any effect on mental development problems caused by Hurler's syndrome.

* Enzyme replacement therapy may be a

good option for children who have a form of MPS I disorder that does not cause mental retardation (Scheie syndrome or 5/2/12 Hurler's/Scheie syndrome).

Bone Marrow Transplant

Bone marrow transplantation (BMT) and

umbilical cord blood transplantation (UCBT) can be used as treatments for MPS. Abnormal physical characteristics, except for those affecting the skeleton and eyes, can be improved, and neurologic degeneration can often be halted. BMT and UCBT are high-risk procedures with high rates of morbidity and mortality. There is no cure for MPS I.

5/2/12