A rare cause of kidney disease in two siblings: transaldolase deficiency.

Abstract excerpt

Transaldolase is a key enzyme in the pentose phosphate pathway, an alternative pathway for glucose metabolism. Transaldolase deficiency leads to the accumulation of metabolites such as polyols and seven-carbon sugars, particularly in urine. Transaldolase deficiency is a rare disorder with multisystem involvement, including liver dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, endocrine abnormalities...

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