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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primary hyperoxaluria and oxalosis

References in periodicals archive ?

The three genetically known types of PH are PH1, which is caused by a mutation in the AGXT gene, causing a deficiency of the enzyme alanine: glyoxylate-aminotransferase, PH2, which is caused by a mutation in the GRHPR gene, causing a deficiency of the enzyme glyoxylate/hydroxypyruvate reductase (GR/HPR), and PH3, which is caused by a mutation in the HOGA1 gene, causing a deficiency of the enzyme 4-hydroxy-2-oxoglutarate aldolase.

Dicerna Submits Updated IND Application for DCR-PHXC for Treatment of Primary Hyperoxaluria for the PHYOX2 Pivotal Trial

A single defective copy may cause milder versions of Mendelian diseases, Denny suspects: "The researchers identified 36 people, for example, who carried only one defective version of a gene called AGXT. Two copies of the gene cause a disease known as primary hyperoxaluria, which can result in kidney failure in toddlers.

What's behind many mystery ailments?

Ante la alta sospecha clinica de trastorno primario en el metabolismo del oxalato por deficiencia enzimatica especifica, se ordeno estudio genetico para la mutacion del gen AGXT, el cual fue positivo, confirmandose de esta manera la entidad.

Hiperoxaluria primaria tipo 1

Genetic testing was pursued, and the results showed an AGXT mutation consistent with a type 1 primary hyperoxaluria.

Cystoisospora belli Gallbladder Infection in a Liver Transplant Donor

One of these genes is alanineglyoxylate aminotransferase (AGXT).

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

The primary hyperoxalurias (PH 1 and PH 2) are rare forms of severe hyperoxaluria and calcium oxalate stones and are caused by mutations in the AGXT and GRHPR genes, respectively [22].

Human SLC26A1 gene variants: a pilot study

Primary hiperoxaluria: a new mutation in gen AGXT (R197Q) cause of neonatal convulsions.

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.

Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis

The three genetically known types of PH include PH1, which is caused by a mutation in the AGXT gene, causing a deficiency of the enzyme alanine: glyoxylate-aminotransferase.

Dicerna Presents Late-Breaking Data Supporting Use of DCR-PHXC in Adults with Primary Hyperoxaluria Types 1 and 2 (PH1 and PH2)

AGXT, [2] the gene encoding the AGT protein, comprises 11 exons over 10 kb and maps to chromosome 2q37.3 (4).

Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type I

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