Utilization of cornstarch in glycogen storage disease type la

Objective: Uncooked cornstarch (UCCS) is used widely for the treatment of patients with glycogen storage disease type I (GSD-I). Previous studies suggested that glucose absorption may be impaired in GSD-I. In order to measure utilization of UCCS in young adults with GSD-Ia and healthy controls, we used a ¹³C-breath test based on the natural enrichment of ¹³C in UCCS. Design: Open, not randomized, prospective interventional study. Methods: Following 1 g/kg UCCS, we studied eight subjects with GSD-Ia (7 males, 1 female; mean age 28.3 years, range 16-42 years) and 15 healthy controls (10 males, 5 females; mean age 23.5 years, range 19-36 years). Breath samples for analysis of ¹³CO₂ enrichment were collected at baseline and at 30-min intervals for 6 h or until hypoglycaemia occurred. Indirect calorimetry was used to measure respiratory gas exchange. Intermediate metabolites, lipids and glucose were measured in plasma. Breath H₂ concentrations were measured as an indicator of malabsorption. Results: Cumulative utilization over 6 h was significantly higher in controls (18.35 ± 6.2% of total carbohydrate intake) than in subjects with GSD-Ia (11.5 ± 4.7%) (P< 0.02). However, utilization of UCCS was virtually identical up to 2.5 h. Two subjects with GSD-Ia fulfilled the criteria for malabsorption. Conclusions: Starch digestion and absorption are not impaired in GSD-Ia. However, overall utilization of UCCS appears to be lower in GSD-Ia, which is most likely secondary to perturbed intermediary metabolism. There are important implications for treatment of this disorder. Ways to improve the efficacy of UCCS in GSD-I are needed.