Abstract
Classic galactosemia results from a deficiency in the galactose-1-phosphate uridylyltransferase (GALT) enzyme, which is essential for galactose metabolism. Treatment focuses on lactose restriction and is achieved with a soy-based diet. Previously, renal calculi have not been documented in galactosemia patients. We present a patient with galactosemia nutritionally dependent on soy-based formula via G-tube, who developed renal calculi. Analysis of urinary stone risk factors revealed elevated urine oxalate levels and stone analysis confirmed calcium oxalate composition. Initiation of lactose- and soy-free elemental formula returned urine oxalate level to normal. Given the presence of a metabolic pathway for the conversion of galactose to oxalate, and the high content of oxalate in soy-based formula, there is the potential for elevated urine oxalate and a resulting risk of urinary calculi formation in patients with classic galactosemia. This potential can be effectively managed with a lactose and soy-free elemental diet. This report describes the clinical course and novel findings of calcium oxalate urinary calculi in a classic galactosemia patient dependent upon soy-based formula, with a discussion regarding the multiple factors leading to increased stone formation in this patient.