Renal Transplantation in Type 1 Glycogenosis: Failure to Improve Glucose Metabolism

In glycogenosis type 1 (GT1), glucose synthesis is deficient due to absence of glucose-6-phosphatase. Development of renal failure in such a patient provided the opportunity to test whether or not this metabolic defect could be reversed by a renal allograft, which contains the missing enzyme and has potential for glucose synthesis. Despite normalization of renal function and both glucocorticoid therapy and the infusion of amino-acid precursors of glucose, fasting hypoglycemia persisted unabated. We conclude that a functioning renal allograft is incapable of meeting the metabolic demands of a patient with glucose-6-phosphatase deficiency. ( JAMA 239:1642-1644, 1978)