Renal tranplantation 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 funtioning renal allograft is incapable of meeting the metabolic demands of a patient with glucose-6-phosphatase deficiency.
D000328:Adult; D005260:Female; D005943:Gluconeogenesis; D005952:Glucose-6-Phosphatase / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000150:complications*; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology / Q000628:therapy; D007668:Kidney / Q000201:enzymology; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000628:therapy*; D016030:Kidney Transplantation; D014184:Transplantation, Homologous
D005952:Glucose-6-Phosphatase