Molecular aetiology of primary hyperoxaluria and its implications for clinical management
CJ Danpure, G Rumsby - Expert Reviews in Molecular Medicine, 2004 - cambridge.org
The primary hyperoxalurias type 1 (PH1) and type 2 (PH2) are autosomal recessive calcium
oxalate kidney stone diseases caused by deficiencies of the metabolic enzymes alanine:
glyoxylate aminotransferase (AGT) and glyoxylate/hydroxypyruvate reductase (GR/HPR),
respectively. Over 50 mutations have been identified in the AGXT gene (encoding AGT) in
PH1, associated with a wide variety of effects on AGT, including loss of catalytic activity,
aggregation, accelerated degradation, and peroxisome-to-mitochondrion mistargeting …
oxalate kidney stone diseases caused by deficiencies of the metabolic enzymes alanine:
glyoxylate aminotransferase (AGT) and glyoxylate/hydroxypyruvate reductase (GR/HPR),
respectively. Over 50 mutations have been identified in the AGXT gene (encoding AGT) in
PH1, associated with a wide variety of effects on AGT, including loss of catalytic activity,
aggregation, accelerated degradation, and peroxisome-to-mitochondrion mistargeting …
Molecular aetiology of primary hyperoxaluria type 1
CJ Danpure - Nephron Experimental Nephrology, 2004 - karger.com
Abstract Primary hyperoxaluria type 1 (PH1) is a rare autosomal-recessive disorder, caused
by a deficiency of the liver-specific intermediary-metabolic enzyme alanine: glyoxylate
aminotransferase (AGT). AGT deficiency results in increased synthesis and excretion of the
metabolic end-product oxalate and the deposition of insoluble calcium oxalate in the kidney
and urinary tract. Numerous mutations and polymorphisms have been identified in the gene
(AGXT) that encodes AGT, some of which interact synergistically to cause a variety of …
by a deficiency of the liver-specific intermediary-metabolic enzyme alanine: glyoxylate
aminotransferase (AGT). AGT deficiency results in increased synthesis and excretion of the
metabolic end-product oxalate and the deposition of insoluble calcium oxalate in the kidney
and urinary tract. Numerous mutations and polymorphisms have been identified in the gene
(AGXT) that encodes AGT, some of which interact synergistically to cause a variety of …