Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria

ConclusionsThe results lead to the conclusion that this baby has two unrelated autosomal recessive conditions, CHI and GO deficiency, and also hyperoxaluria of unknown aetiology. Deficiency of GO is a very rare disorder with only two previously published cases. It is considered to be an essentially benign inborn error of metabolism. The present case is unique in that GO deficiency is associated with persistent hyperoxaluria.
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research