Antibodies against recombinant proteins can significantly reduce their effectiveness in unanticipated ways. We evaluated the humoral response of mice with the lysosomal storage disease mucopolysaccharidosis type I treated with weekly intravenous recombinant human alpha-l-iduronidase (rhIDU). Unlike patients, the majority of whom develop antibodies to recombinant human alpha-l-iduronidase, only ...

background: glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most common disease of the hexose monophosphate pathway existing in more than 400 million people worldwide. the aim of this study was to identify neonates with g6pd deficiency following national program for screening and education of affected newborns’ parents started since june 2007 in mazandaran, a northern province of ira...

abstract background: hereditary red cell enzyme disorders are a group of non-immune/spherocytic hemolytic anemia, although these disorders are rare and they have not public health problems, the detection of these defects could help to physician in treatment and differential diagnosis. this study evaluated 5 enzymopathies in patients with hereditary non –immune/spherocytic hemolytic anemia (hnsh...

glucose-6-phosphate dehydrogenase (g6pd) deficiency is the most prevalent enzymopathy in mankind. it has sex-linked in­heritance. this enzyme exists in all cells.  g6pd deficiency increases the sensitivity of red blood cells to oxidative dam­age. g6pd deficiency was discovered in 1950 when some people suffered hemolytic anemia as a result of taking antimalar­ial drugs (primaquin). most people w...

In mucopolysaccharidosis I, deficiency of alpha-L-iduronidase can cause spinal cord compression (SCC) due to storage of glycosaminoglycans (GAGs) within the cervical meninges. As intravenous enzyme replacement therapy (ERT) is not likely to provide enzyme across the blood-brain barrier, standard treatment for this complication is usually surgical, which has a high morbidity and mortality risk. ...

We investigated measuring serum alpha-L-iduronidase (EC 3.2.1.76) by a sensitive fluorometric assay in 28 members of a canine family with mucopolysaccharidosis I. If assayed on the day of collection, serum was an acceptable specimen for identifying affected, carrier, and normal dogs. The overall correlation (r) between iduronidase activity in serum and mononuclear leukocytes was 0.966. However,...

BACKGROUND Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by the deficiency of α-L-iduronidase (IDUA) activity. MPS I is classified into three clinical phenotypes called Hurler, Scheie, and Hurler-Scheie syndromes according to their clinical severity. Treatments for MPS I are available. Better outcomes are associated with early treatment, which suggests a need for newborn scre...