Blood glucose trends in glycogen storage disease type Ia: A cross‐sectional study

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...

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Published in:Journal of inherited metabolic disease 2023-07, Vol.46 (4), p.618-633
Main Authors: Fukuda, Tokiko, Ito, Tetsuya, Hamazaki, Takashi, Inui, Ayano, Ishige, Mika, Kagawa, Reiko, Sakai, Norio, Watanabe, Yoriko, Kobayashi, Hironori, Wasaki, Yosuke, Taura, Junki, Imamura, Yuki, Tsukiuda, Tsutomu, Nakamura, Kimitoshi
Format: Article
Language:English
Subjects:
Blood Glucose
Blood Glucose Self-Monitoring
Cholesterol
continuous glucose monitoring
Cross-Sectional Studies
G6PC gene
Genotypes
Glucose
Glucose monitoring
Glucose-6-Phosphatase - genetics
glucose‐6‐phosphatase
glycemic control
Glycogen
Glycogen Storage Disease Type I - complications
glycogen storage disease type Ia
Humans
Hypoglycemia
Hypoglycemia - complications
Multiple regression analysis
Nutrition
Nutrition therapy
Renal insufficiency
Storage diseases
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Summary: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 (
ISSN:0141-8955
1573-2665
DOI:10.1002/jimd.12610