Linked Life Data

7028650

Source:http://linkedlifedata.com/resource/pubmed/id/7028650

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
1982-1-28
pubmed:abstractText
Gyrate atrophy of the choroid and retina is caused by deficient activity of ornithine ketoacid aminotransferase, a pyridoxal phosphate dependent enzyme. Besides the typical eye findings, abnormalities have been found on muscle biopsy, electro-encephalography, electromyography and electrocardiography, establishing this as a generalized disorder. Ornithine is markedly elevated in plasma and other body fluids. Plasma lysine, glutamate, glutamine and creatine are reduced. The possible contributions of these biochemical disturbances to the pathogenesis of gyrate atrophy are discussed. The disease is one of the few examples of an inherited chorioretinal dystrophy whose underlying biochemical defect is known. It therefore offers a unique opportunity to develop and test rational approaches to therapy. These include lowering of the abnormally high ornithine by dietary restriction of its precursor arginine, facilitation of ornithine excretion by administration of alpha-aminoisobutyric acid, replacement of deficient products such as lysine or creatine, or increasing residual enzyme activity by high levels of cofactor (vitamin B6). The results of several studies employing such approaches to therapy are presented as well as preliminary indications of possible benefit in a few patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0165-5701
pubmed:author
pubmed:issnType
Print
pubmed:volume
4
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
23-32
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
Gyrate atrophy of the choroid and retina. Approaches to therapy.
pubmed:publicationType
Journal Article, Review