Linked Life Data

16922352

Source:http://linkedlifedata.com/resource/pubmed/id/16922352

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
30
pubmed:dateCreated
2006-8-22
pubmed:abstractText
Primary hyperoxaluria type I (PH1) is a congenital defect in glyoxylate metabolism caused by a deficiency in the liver-specific peroxisomal enzyme known as alanine glyoxylate aminotransferase (AGT). The deficiency is due to mutations in the AGXT gene, located on chromosome 2q37.3, and results in the conversion of glyoxylate to oxalate. The crystallisation of oxalate with calcium results in symptoms varying from a solitary kidney stone to end-stage renal disease with systemic oxalosis. The diagnosis is based on increased oxalate and glycolate excretion in the urine, reduced AGT activity in liver tissue, and confirmed mutations in the AGXT gene. Over 50 disease-causing mutations have been identified in PH1, which are associated with a wide range of effects on the AGT enzyme. Homozygous Gly170Arg or Phei52Ile mutations are associated with a reduction in urinary oxalate excretion upon pyridoxine administration and long-term preservation of renal function when treatment is initiated in a timely manner. Homozygous 33insC and Gly82Arg mutations result in a much poorer prognosis. Mutational analysis of the AGXT gene in PH1 patients can be a useful tool for establishing the diagnosis and choosing an appropriate therapeutic strategy.
pubmed:commentsCorrections
pubmed:language
dut
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0028-2162
pubmed:author
pubmed:issnType
Print
pubmed:day
29
pubmed:volume
150
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1669-72
pubmed:dateRevised
2006-11-30
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
[From gene to disease; primary hyperoxaluria type I caused by mutations in the AGXT gene].
pubmed:affiliation
Academisch Medisch Centrum/Universiteit van Amsterdam, G8-205, Postbus 22.660, 1100 DD Amsterdam.
pubmed:publicationType
Journal Article, English Abstract, Review