AGXT

AGXT

Abbrev. for alanine glyoxalate aminotransferase, an ENZYME necessary for the metabolism in the liver of the amino acid alanine. The gene that codes for this protein is on the long arm of chromosome number 2. Mutations of this gene results in increased oxalate in the urine with kidney stones and even fatal kidney failure. Prenatal genetic diagnosis is possible.
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References in periodicals archive ?
Mutations to AGXT can lead to kidney stones and primary hyperoxaluria.
Genetic testing: the key to truly personalized medicine
PH1 is a rare, inherited genetic disorder of the AGXT gene in the liver which causes excess oxalate production.
Dicerna Pharmaceuticals files IND application with the US FDA for therapeutic candidate DCR-PH1 for treating primary hyperoxaluria type 1
Tip I PH, hepatik peroksimal anzim alanin-glikolat aminotransferazda (AGT) fonksiyonel hasara yol acan AGXT genindeki mutasyonlarla olusur.
Pediyatrik tas hastaliklarinda guncel medikal tedavi / Current medical treatment in pediatric urolithiasis
Primary hiperoxaluria: a new mutation in gen AGXT (R197Q) cause of neonatal convulsions.
La hiperoxaluria primaria mas frecuente es la tipo I, debido a la mutacion en el gen AGXT de la enzima alanina-glioxilato aminotrasferasa, enzima que metaboliza glioxilato para convertirlo en glicina, el gen esta localizado en el extremo del brazo largo del cromosoma 2-2q37) (3- 5).
Hiperoxaluria primaria: una nueva mutacion en el gen AGXT (r197q) causante de convulsiones neonatales
The 1st step in the diagnostic process involves measurement of urinary oxalate, glycolate, and/or Lglycerate, followed by enzymatic analysis of AGT (in liver) or GR/ HPR (in lymphocytes), or genetic testing of the AGXT gene for PH1 or the GRHPR gene for PH2.
One patient had PH1, confirmed by detection of a G1y170Arg mutation on the so-called minor allele of the AGXT gene.
Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis
The minor AGXT allele has a frequency of 15%-20% in European and North American populations (6) but a much higher frequency, ~50%, among PH1 patients (7).
Intronic primers, based on the genomic sequence of AGXT in a chromosome 2 contig (GenBank accession no.
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type I
Flexibility of melting temperature assay for rapid detection of insertions, deletions, and single-point mutations of the AGXT gene responsible for type 1 primary hyperoxaluria.
Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes
This makes it impossible to "easily distinguish different types of AGXT mutations" as claimed by Pirulli et al.
Limitations of genotyping based on amplicon melting temperature
Several technical approaches have been used to identify 7 polymorphisms and 26 mutations in the AGXT gene (3-6).
Flexibility of melting temperature assay for rapid detection of insertions, deletions, and single-point mutations of the AGXT gene responsible for type 1 primary hyperoxaluria

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