Amelioration of Proximal Renal Tubular Dysfunction in Type I Glycogen Storage Disease with Dietary Therapy

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Abstract
IN Type I glycogen storage disease, glycogen accumulates in the liver, kidney, and intestine because of deficient glucose-6-phosphatase activity (Type Ia) or deficient glucose-6-phosphate translocase activity (Type Ib). Lack of activity of either enzyme causes fasting hypoglycemia. The clinical manifestations of Type I glycogen storage disease include growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, and hyperlipidemia. These abnormalities have been attributed to chronic hypoglycemia because therapy that maintains normoglycemia corrects the metabolic abnormalities and the retarded growth. Methods of effective therapy include total parenteral nutrition, nocturnal nasogastric infusion of glucose,1 and frequent oral administration of uncooked cornstarch.2 The late complications of ineffectively treated disease include gouty arthritis, osteoporosis, hepatic adenomas that may undergo malignant transformation,3 and a chronic renal disease with focal segmental glomerulosclerosis and interstitial fibrosis.4 This renal disease is manifested by hyperfiltration, proteinuria, and progressive renal insufficiency.4 , 5