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Primary hyperoxaluria type 1

Disease definition

Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement.

ORPHA:93598

  • Synonym(s):
    • Glycolic aciduria
    • Peroxisomal alanine-glyoxylate aminotransferase deficiency
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E74.8
  • OMIM: 259900
  • UMLS: C0268164
  • MeSH: C536414
  • GARD: 2835
  • MedDRA: -

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