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.
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.
Genetic testing was pursued, and the results showed an AGXT
mutation consistent with a type 1 primary hyperoxaluria.
One of these genes is alanineglyoxylate aminotransferase (AGXT
PH1 is a rare, inherited genetic disorder of the AGXT
gene in the liver which causes excess oxalate production.
Tip I PH, hepatik peroksimal anzim alanin-glikolat aminotransferazda (AGT) fonksiyonel hasara yol acan AGXT
genindeki mutasyonlarla olusur.
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 .
Primary hiperoxaluria: a new mutation in gen AGXT
(R197Q) cause of neonatal convulsions.
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.
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.
,  the gene encoding the AGT protein, comprises 11 exons over 10 kb and maps to chromosome 2q37.3 (4).