Glycogenosis type 1 (GSD-1) is caused by inherited defects of the microsomal glucose-6-phosphatase complex, the activity of which is expressed in the proximal renal tubule, as well as the liver (Burchell 1992). Common clinical manifestations of this disorder include hepatomegaly and growth failure and the metabolic consequences include hypoglycaemia and increased blood concentrations of lactate, urate, cholesterol and triglycerides (Chen and Burchell 1995). Dietary therapy with continuous overnight glucose enteral feeds (COG) and uncooked cornstarch (UCCS) has improved many of these abnormalities, with better survival (Moses 1990). The aim of therapy is to maintain normoglycaemia and prevent the biochemical abnormalities, including lactic acidosis. Unfortunately, an increasing number of long-term complications are becoming apparent, including gout, renal calcification and renal dysfunction (Talente et al 1994). Currently, there is no single measure with which to assess 'metabolic control', although urinary lactate excretion has been advocated (Femandes and Berger 1987) as a timed collection of urine may reflect blood lactate concentrations during that period. However, the recently described disturbances of renal glomerular (Chen et al 1988) and particularly tubular function (Chen et al 1990) may affect urinary lactate excretion. We have assessed urinary lactate excretion in GSD-1 patients in relation to other metabolic indices and renal tubular function.
PATIENTS AND METHODSSixteen patients (7 female) aged from 3.2 to 12.4 years (median 8.25 years) with biopsyproven GSD-t were studied; 10 had GSD-la and six GSD-Ib/c. At the time of the study 13 were treated with COG feeds and daytime UCCS and 3 were only taking intermittent UCCS throughout the 24-hour period. The mean (+ standard deviation) calorific content of their diets was 65(+ 13.4) kcal/kg per day, made up of 63(+6.5)% carbohydrate, 11(+2.3)% protein and 26(+6.5)% fat. All were taking allopurinol to treat hyperuricaemia. Height and height velocity were measured by a single observer (EJ.L.) over a 6-month period to calculate height SDS and height velocity SDS compared to normal UK standards (Tanner 201