Article
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Human mutation - 1 Jun 2009
Williams Emma L, Acquaviva Cecile, Amoroso Antonio, Chevalier Francoise, Coulter-Mackie Marion, Monico Carla G, Giachino Daniela, Owen Tricia, Robbiano Angela, Salido Eduardo, Waterham Hans, Rumsby Gill
Abstract excerpt
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive, inherited disorder of glyoxylate metabolism arising from a deficiency of the alanine:glyoxylate aminotransferase (AGT) enzyme, encoded by the AGXT gene. The disease is manifested by excessive endogenous oxalate production, which leads to impaired renal function and associated morbidity. At least 146 mutations have now been described, 50 of which are...
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