Background and objectives: Renal failure is a major complication in glycogen storage disease type I (GSD I). We studied the natural course of renal function in GSD I patients. We studied differences between patients in optimal and nonoptimal metabolic control and possible renoprotective effects of angiotensin converting enzyme inhibition.Design, setting, participants, & measurements: Thirty-nine GSD I patients that visited our clinic were studied. GFR and effective renal plasma flow (ERPF) were measured by means of I 125 iothalamate and I 131 hippuran clearance and corrected for body surface area. Microalbuminuria was defined as >2.5 mg albumin/mmol creatinine and proteinuria as >0.2 g protein per liter. Optimal metabolic control was present when blood glucoses were >3.5 mmol/L, urine lactate/creatinine ratios <0.06 mmol/mmol, triglycerides <6.0 mmol/L, and uric acid concentrations <450 mol/L.Results: Quadratic regression analysis showed a biphasic pattern in the course of GFR and ERPF related to age. Microalbuminuria was observed significantly less frequently in the patients with optimal metabolic control compared with the patients with nonoptimal metabolic control. A significant decrease in GFR was observed after starting ACE inhibition.Conclusions: This study describes a biphasic pattern of the natural course of GFR and ERPF in GSD I patients, followed by the development of microalbuminuria and proteinuria. Optimal metabolic control has a renoprotective effect on the development of microalbuminuria and proteinuria in GSD I patients. Treatment with ACE inhibitors significantly decreases the GFR, especially in GSD I patients with glomerular hyperfiltration.

Objective-Reports on pregnancies in women with GSD-Ia are scarce. Due to improved life expectancy, pregnancy is becoming an important issue. We describe 15 pregnancies focusing on dietary treatment, biochemical parameters and GSD-Ia complications.Study Design-Carbohydrate requirements (mg/kg/min), triglyceride and uric acid levels, liver ultrasonography and creatinine clearance were investigated before, during and after pregnancy. Data of the newborns were obtained from the records.Results-In the first trimester, a significant increase in carbohydrate requirements was observed (p=0,007). Most patients had acceptable triglyceride and uric acid levels during pregnancy. No increase in size/number of adenomas was seen. In 3/4 patients, a decrease in GFR was observed after pregnancy. In three pregnancies, lactic acidosis developed during delivery with severe multiorgan failure in one. All but one of the children are healthy and show good psychomotor development. Conclusion-Successful pregnancies are possible in GSD-Ia patients, although specific GSD-Ia related risks are present.

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We describe a 16-year old boy with glycogen storage disease type Ib, homozygous for the common 1211-1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.