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Peroxisomal biogenesis disorders due to PEX gene defects are classified into many subgroups, of which Zellweger spectrum disorders (ZSDs) represent the major subgroup. The ZSDs are clinical and biochemical disorders divided into three phenotypes: neonatal, adolescence, or adult. Clinical presentations vary with severity of the condition. Metabolic abnormalities occur due to functional peroxisomal defects that could be detected in blood and urine. No cure or definitive management exists to date; only supportive and palliative measures are applied to prevent worse sequelae. We experienced a case of oxalate renal stones in a patient with ZSD. This patient had hyperoxaluria and hyperglycolic aciduria with clinically associated clues that correlate with urinary oxalate load. Urinary oxalate and glycolate excretion were assessed. Radiological workup revealed renal involvement with urolithiasis and nephrocalcinosis. Urinalysis and ultrasonography for stones and hyperoxaluria should be used to screen patients with ZSD for early intervention to prevent renal damage.

Renal oxalate stones in children with Zellweger spectrum disorders