Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 01-10-2009
Symbol PHXL1
Location 2q37.3
Name hyperoxaluria, primary, type I
Other name(s)
  • oxalosis I
  • alanine-glyoxylate aminotransferase deficiency
  • Corresponding gene AGXT
    Other symbol(s) AGAT, AGXT, HP1
    Main clinical features
  • severe kidney stone disease and/or nephrocalcinosis
  • high urinary oxalate excretion and progressive bilateral oxalate urolithiasis and nephrocalcinosis with extrarenal deposits of oxalate in later stages and death from renal failure occurs in childhood or early adult life
  • Genetic determination autosomal recessive
    Prevalence 1 in 120,000 live births
    Function/system disorder metabolism/peroxisomal
    Type disease
    Gene product
    Name alanine : glyoxylate aminotransferase
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function perturbing AGT folding, dimerization and stability
    Remark(s) AGT deficiency results in increased synthesis and excretion of the metabolic end-product oxalate and deposition of insoluble calcium oxalate in the kidney and urinary tract (Danpure 2005)