MPS I and MPS II are caused by mutations in the genes encoding alpha-L-iduronidase
(IDUA) and iduronate 2-sulfatase (IDS) enzymes, respectively.
She is missing a crucial enzyme called alpha-L-iduronidase
, which breaks down toxins in the body.
Mucopoly saccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase
mutations in Tunisian patients.
The result is a lack of the enzyme alpha-L-iduronidase
Cambridge, MA) announced the issuance of a third United States patent involving the lysosomal enzyme alpha-L-iduronidase
(IDUA), which is deficient in persons suffering from mucopolysaccharidosis type I (MPS I), also referred to as Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome.
MPS I (also known as Hurler, Hurler-Scheie, and Scheie syndromes) is a life-threatening genetic disease caused by a deficiency of the enzyme alpha-L-iduronidase
MPS I is caused by mutations in the gene encoding the alpha-L-iduronidase
Aldurazyme is a specific form of purified recombinant human alpha-L-iduronidase
that is being investigated as an enzyme replacement therapy for MPS I, a life-threatening genetic disease for which no specific drug treatments currently exist.
MPS I, which is a rare lysosomal storage disorder, is reportedly caused by mutations in the gene encoding the alpha-L-iduronidase
Cambridge, MA; 617-349-0271) announced that the United States Patent and Trademark Office has issued United States Patent 6,149,909 entitled, "Synthetic Alpha-L-Iduronidase
and Genetic Sequences Encoding Same.