Preemptive Liver Transplantation from a Living Related Donor for Primary Hyperoxaluria Type I

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Abstract
Primary hyperoxaluria type I is an autosomal recessive disorder characterized by a deficiency of liver-specific peroxisomal alanine–glyoxylate aminotransferase (EC 2.6.1.44). The disease leads to increased urinary excretion of oxalate, causing urolithiasis, nephrocalcinosis, progressive renal insufficiency, and eventually, oxalosis — that is, the accumulation of insoluble oxalate throughout the body.