Proximal renal tubular dysfunction with glucosuria, phosphaturia, generalized aminoaciduria, bicarbonate wasting, and hypophosphatemia are characteristic findings. Serum alkaline phosphatase levels are increased, and there are radiological findings of rickets. Mild fasting hypoglycemia and hyperlipidemia may be present, but these are not consistent findings. Uric acid levels are low. Liver transaminases and plasma lactate are usually normal. Results of tissue biopsy show marked accumulation of glycogen in the hepatocytes and proximal renal tubular cells.