Linked Life Data

14761135

Source:http://linkedlifedata.com/resource/pubmed/id/14761135

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2004-2-5
pubmed:abstractText
Fabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with alpha-galactosyl moieties consisting predominantly of globotriaosylceramide, galabiosylceramide and two additional glycosphingolipids. Four hemizygotes patients with a family history of Fabry disease and deficiency of the enzyme alpha-galactosidase A were selected. Each patient received purified alpha-galactosidase by intravenous infusion (0.2 mg/kg). The infusion was administered every 2 weeks, for 40 min, for a total of 12 months. Outcome measures include neurological manifestations (acroparaesthesia, hypohidrosis, vasomotion), kidney function, cardiac manifestations, angiokeratomas, and corneal dystrophy. alpha-Galactosidase A prepared from human fibroblast is safe and well tolerated. After 12 months of therapy the mean creatinine clearance increased, there was significant improvement in the acroparaesthesias and in the hypohidrosis. Physical stigmata, such as angiokeratomas in the skin, and characteristic benign corneal abnormalities remained stable. Enzyme replacement therapy would therefore represent a significant advance in treatment of patients with Fabry disease. Enzyme replacement therapy is safe and likely to improve the prognosis of Fabry disease.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0926-9959
pubmed:author
pubmed:issnType
Print
pubmed:volume
17
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
676-9
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Fabry disease: enzyme replacement therapy.
pubmed:affiliation
Department of Dermatology, University of Palermo, Via del Vespro 131, 90123 Palermo, Italy. istderm@unipa.it
pubmed:publicationType
Journal Article