Development of minimally invasive 13 C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia.

Autor: Turki A; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada., Stockler S; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.; Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada., Sirrs S; Department of Medicine, Division of Endocrinology, University of British Columbia, Vancouver, British Columbia, Canada.; Vancouver Costal Health, Adult Metabolic Diseases Clinic, Vancouver, British Columbia, Canada., Salvarinova R; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.; Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada., Ho G; Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada., Branov J; Vancouver Costal Health, Adult Metabolic Diseases Clinic, Vancouver, British Columbia, Canada., Rosen-Heath A; Vancouver Costal Health, Adult Metabolic Diseases Clinic, Vancouver, British Columbia, Canada., Bosdet T; Vancouver Costal Health, Adult Metabolic Diseases Clinic, Vancouver, British Columbia, Canada., Elango R; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada.; School of Population and Public Health, University of British Columbia, Vancouver, British Columbia, Canada.
Jazyk: angličtina
Zdroj: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 May 11; Vol. 31, pp. 100880. Date of Electronic Publication: 2022 May 11 (Print Publication: 2022).
DOI: 10.1016/j.ymgmr.2022.100880
Abstrakt: Background: Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder caused by deficiency of glucose-6-phosphatase (G6Pase), resulting in fasting hypoglycemia. Dietary treatment with provision of uncooked cornstarch (UCCS) or a novel modified cornstarch ( Glycosade® ) is available to treat hypoglycemia, yet choice of carbohydrate to achieve a desirable glycemic control is debated. 13 C-glucose breath test ( 13 C-GBT) can be used to examine glucose metabolism from different carbohydrate sources via 13 CO 2 in breath.
Objectives: Our objectives were: 1) establishing the use of a minimally invasive 13 C-GBT to examine in vivo glucose metabolism in healthy adults, and 2) using 13 C-GBT to measure utilization of the standard UCCS vs. Glycosade® in GSD Ia and healthy controls.
Design: Experiment 1- Ten healthy adults (6F: 4 M, 22-33y) underwent 13 C-GBT protocol twice as a proof-of-principle, once with oral isotope dose (glucose 75 g + [U- 13 C 6 ] d-glucose 75 mg) and once without isotope (only glucose 75 g) to test sensitivity of natural 13 C-enrichment. Breath samples were collected at baseline and every 20 min for 240 min. Rate of CO 2 production was measured at 120 min using indirect calorimetry. Finger-prick blood glucose was measured using a glucometer hourly to test hypoglycemia (glucose <4 mmol/L). Experiment 2- Three GSD Ia (12y, 13y, and 28y) and six healthy controls (2F: 4 M, 10-32y) underwent 13 C-GBT protocol twice: with UCCS or Glycosade® (based on their current prescribed dose 42-100 g) after ~4 h fast based on our GSD Ia patients with fasting tolerance.
Results: Findings 1- Maximum 13 C-enrichments occurred at 200 min without and with [U- 13 C 6 ] d-glucose in all healthy adults, suggesting natural enrichment is sensitive for the 13 C-GBT. Findings 2- Glycosade® utilization was lower than UCCS utilization in 12y and 13y GSD Ia, but was similar in the 28y GSD Ia.
Conclusions: 13 C-GBT is a novel minimally invasive functional test to examine glucose metabolism in GSD Ia, and test new products like Glycosade® , which has the potential to improve nutritional management and individualized carbohydrate supply in GSD.
Competing Interests: None.
(© 2022 The Authors.)
Databáze: MEDLINE
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