GTR Home > Conditions/Phenotypes > Primary hyperoxaluria, type I

Disease characteristics

Excerpted from the GeneReview: Primary Hyperoxaluria Type 1
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT) (EC 2.6.1.44), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium salts that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD) with a history of renal stones or calcinosis. Age at onset of symptoms typically ranges from one to 25 years. Approximately 19% of affected individuals present before age four to six months with severe disease, often associated with failure to thrive, nephrocalcinosis, anemia, and metabolic acidosis. Approximately 54% of affected individuals present in late childhood or early adolescence, usually with symptomatic nephrolithiasis. The remainder of affected individuals present in adulthood with recurrent renal stones. The natural history of untreated PH1 is one of inexorable decline in renal function as a result of progressive nephrolithiasis/nephrocalcinosis, with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD.

Associated genes

Clinical features

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  • Hematuria
  • Bone pain
  • Atrioventricular block
  • Renal insufficiency
  • Nephrocalcinosis
  • Retinopathy
  • Optic atrophy
  • Cutis marmorata
  • Acrocyanosis
  • Optic neuropathy
  • Metabolic acidosis
  • Pathologic fracture
  • Hyperoxaluria
  • Intermittent claudication
  • Peripheral vascular insufficiency
  • Calcium oxalate nephrolithiasis
  • Peripheral neuropathy
  • Increased bone mineral density
  • Gangrene
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