抄録
The patient was a 24-year-old woman. Her parents were consanguineous. She had had abdominal distension and low stature from her childhood. She had often had nasal bleeding. She had never had convulsion or disturbances of consciousness. She had arthralgia at her right foot joint and was referred to our hospital.
She was 140 cm tall and weighed 43 kg. She had a round face and reddish cheeks. The liver edge felt at about 3 cm below the right costal margin. She had hyperuricemia (13.2 mg/dl), hyperlactemia (58 mg/dl) and hyperlipidemia. The fasting plasma glucose level was subnormal (65 mg/dl). Blood lactate level was decreased by an oral glucose load. The plasma glucose was not increased after an oral load of 90 g of fructose or galactose. Glucose 6-phosphatase activity of intestinal mucosa was decreased to less than 10% of the normal control. Glycogen content of intestinal mucosa was increased to 10.3 mg/g (the normal control,1.5).
Blood uric acid was increased and serum inorganic phosphate was decreased after glucagon injection. Hyper-reaction of serum uric acid in fructose tolerance test disappeared after the administration of allopurinol. Clearance ratio of uric acid to creatinine was low. Hyperuricemia in our case may be due to enhanced purine metabolism and low excretion of uric acid.
