Linked Life Data

16706651

Source:http://linkedlifedata.com/resource/pubmed/id/16706651

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2006-5-18
pubmed:abstractText
Metabolic storage disorders are caused by mutations in genes that result in insufficient activity of enzymes required for the catabolism of substances that arise from the turnover of senescent cells in the body. Among the most prevalent of these conditions are Gaucher disease and Fabry disease, which are caused by reduced activity of the housekeeping enzymes glucocerebrosidase and alpha-galactosidase A, respectively. Enzyme replacement therapy is extraordinarily effective for patients with Gaucher disease. It is under examination in patients with Fabry disease, and improvement of various clinical aspects in these patients has been documented. The blood-brain barrier prevents systemically administered enzymes from reaching the central nervous system. This limitation is a major impediment for the treatment of patients with enzyme deficiency disorders in whom the brain is involved. Alternatives to enzyme replacement therapy that have been initiated to treat systemic manifestations and brain involvement in patients with metabolic disorders include substrate reduction therapy, active site-specific chaperone therapy, and gene therapy. The present status and anticipated advances in the application of these therapeutic approaches are examined here.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1549-1684
pubmed:author
pubmed:issnType
Print
pubmed:volume
9
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
237-44
pubmed:dateRevised
2007-9-11
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Emerging strategies for the treatment of hereditary metabolic storage disorders.
pubmed:affiliation
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1260, USA. bradyr@ninds.nih.gov
pubmed:publicationType
Journal Article, Review