TY - JOUR
T1 - Blood glucose trends in glycogen storage disease type Ia
T2 - A cross-sectional study
AU - Fukuda, Tokiko
AU - Ito, Tetsuya
AU - Hamazaki, Takashi
AU - Inui, Ayano
AU - Ishige, Mika
AU - Kagawa, Reiko
AU - Sakai, Norio
AU - Watanabe, Yoriko
AU - Kobayashi, Hironori
AU - Wasaki, Yosuke
AU - Taura, Junki
AU - Imamura, Yuki
AU - Tsukiuda, Tsutomu
AU - Nakamura, Kimitoshi
N1 - Publisher Copyright:
© 2023 SSIEM.
PY - 2023/7
Y1 - 2023/7
N2 - Background: Glycogen storage disease type Ia (GSDIa) is caused by biallelic pathogenic variants in the glucose-6-phosphatase gene (G6PC) and mainly characterized by hypoglycemia, hepatomegaly, and renal insufficiency. Although its symptoms are reportedly mild in patients carrying the G6PC c.648G>T variant, the predominant variant in Japanese patients, details remain unclear. Therefore, we examined continuous glucose monitoring (CGM) data and daily nutritional intake to clarify their associations in Japanese patients with GSDIa with G6PC c.648G>T. Methods: This cross-sectional study enrolled 32 patients across 10 hospitals. CGM was performed for 14 days, and nutritional intake was recorded using electronic diaries. Patients were divided according to genotype (homozygous/compound heterozygous) and age. The durations of biochemical hypoglycemia and corresponding nutritional intake were analyzed. Multiple regression analysis was performed to identify factors associated with the duration of biochemical hypoglycemia. Results: Data were analyzed for 30 patients. The mean daily duration of hypoglycemia (<4.0 mmol/L) in the homozygous group increased with age (2–11 years [N = 8]: 79.8 min; 12–18 years [5]: 84.8 min; ≥19 years [10]: 131.5 min). No severe hypoglycemic symptoms were recorded in the patients' diaries. The mean frequency of snack intake was approximately three times greater in patients aged 2–11 years (7.1 times/day) than in those aged 12–18 years (1.9 times/day) or ≥19 years (2.2 times/day). Total cholesterol and lactate were independently associated with the duration of biochemical hypoglycemia. Conclusion: Although nutritional therapy prevents severe hypoglycemia in patients with GSDIa with G6PC c.648G>T, patients often experience asymptomatic hypoglycemia.
AB - Background: Glycogen storage disease type Ia (GSDIa) is caused by biallelic pathogenic variants in the glucose-6-phosphatase gene (G6PC) and mainly characterized by hypoglycemia, hepatomegaly, and renal insufficiency. Although its symptoms are reportedly mild in patients carrying the G6PC c.648G>T variant, the predominant variant in Japanese patients, details remain unclear. Therefore, we examined continuous glucose monitoring (CGM) data and daily nutritional intake to clarify their associations in Japanese patients with GSDIa with G6PC c.648G>T. Methods: This cross-sectional study enrolled 32 patients across 10 hospitals. CGM was performed for 14 days, and nutritional intake was recorded using electronic diaries. Patients were divided according to genotype (homozygous/compound heterozygous) and age. The durations of biochemical hypoglycemia and corresponding nutritional intake were analyzed. Multiple regression analysis was performed to identify factors associated with the duration of biochemical hypoglycemia. Results: Data were analyzed for 30 patients. The mean daily duration of hypoglycemia (<4.0 mmol/L) in the homozygous group increased with age (2–11 years [N = 8]: 79.8 min; 12–18 years [5]: 84.8 min; ≥19 years [10]: 131.5 min). No severe hypoglycemic symptoms were recorded in the patients' diaries. The mean frequency of snack intake was approximately three times greater in patients aged 2–11 years (7.1 times/day) than in those aged 12–18 years (1.9 times/day) or ≥19 years (2.2 times/day). Total cholesterol and lactate were independently associated with the duration of biochemical hypoglycemia. Conclusion: Although nutritional therapy prevents severe hypoglycemia in patients with GSDIa with G6PC c.648G>T, patients often experience asymptomatic hypoglycemia.
UR - http://www.scopus.com/inward/record.url?scp=85163127750&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85163127750&partnerID=8YFLogxK
U2 - 10.1002/jimd.12610
DO - 10.1002/jimd.12610
M3 - Article
C2 - 37114839
AN - SCOPUS:85163127750
SN - 0141-8955
VL - 46
SP - 618
EP - 633
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
IS - 4
ER -