iduronidase การใช้

• All three types result from an absence of, or insufficient levels of, the enzyme ?-L-iduronidase.
• The gene is named IDUA because of its iduronidase enzyme protein product ., 52 different mutations in the IDUA gene have been shown to cause Hurler syndrome.
• Glycoside hydrolase family 39 CAZY GH _ 39 comprises enzymes with several known activities; alpha-L-iduronidase ( ); beta-xylosidase ( ).
• If someone is born with one normal and one defective copy of the gene ( s ) he is called a carrier and will produce less ?-L-iduronidase than an individual with two normal copies of the gene.
• When Genzyme agreed to fund the development and commercialization of the drug, known as alpha-L iduronidase, BioMarin had an understanding with the FDA about the clinical testing needed to measure the drug's safety and effectiveness in MPS-1 patients.
• Currently BioMarin Pharmaceutical produces enzyme replacement therapies for MPS type I and VI . Aldurazyme is an enzymatic replacement therapy for alpha-L-iduronidase produced by BioMarin for use in Type I MPS . In July 2006, the United States Food and Drug Administration approved a synthetic version of I2S produced by Shire Pharmaceuticals Group, called Elaprase, as a treatment for MPS type II ( Hunter syndrome ).