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Hurler syndrome
- 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.
- 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
- 7. Umbilical hernia Deafness Shortness in breath Abnormal bones of spine and claw hand Full lips with a thick , large tongue. Increased body hair
- 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.
- 10. References