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 C-breath test based on the natural enrichment of C 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 CO 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 H 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.
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 C-breath test based on the natural enrichment of C 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 CO 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 H 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.
Authors: K Bhattacharya; R C Orton; X Qi; H Mundy; D W Morley; M P Champion; S Eaton; R F Tester; P J Lee Journal: J Inherit Metab Dis Date: 2007-05-19 Impact factor: 4.982
Authors: Kaustuv Bhattacharya; Helen Mundy; Maggie F Lilburn; Michael P Champion; David W Morley; François Maillot Journal: Orphanet J Rare Dis Date: 2015-02-15 Impact factor: 4.123
Authors: Alessandro Rossi; Martijn G S Rutten; Theo H van Dijk; Barbara M Bakker; Dirk-Jan Reijngoud; Maaike H Oosterveer; Terry G J Derks Journal: Front Endocrinol (Lausanne) Date: 2022-06-17 Impact factor: 6.055