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Type 1 Hyperoxaluria

Hyperoxaluria is a rare, inherited condition caused by deficiencies in the liver enzyme, alanine-glyoxylate aminotransferase. When present, this enzyme metabolizes oxalic acid, which is found in fruits and vegetables. Without this liver enzyme, oxalic acid (oxalates) accumulates in urine, and the condition is referred to as primary hyperoxaluria. Of the two types of primary hyperoxaluria, type 1 is the more common, generally affecting children under the age of five. Roughly 10 percent of infants develop neonatal oxaluria.

Kidney stones and calcium deposits in the kidney's parenchyma are among the clinical presentations. Type 1 can lead to renal failure and renal canculi. Treatment has proven relatively unsuccessful.