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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 |
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| container_end_page | 633 |
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| container_title | Journal of inherited metabolic disease |
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| creator | 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 |
| description | 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 ( |
| doi_str_mv | 10.1002/jimd.12610 |
| format | article |
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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.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1002/jimd.12610</identifier><identifier>PMID: 37114839</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>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</subject><ispartof>Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.618-633</ispartof><rights>2023 SSIEM.</rights><rights>Copyright © 2023 SSIEM</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3570-baa18085dd89adec4a74d15ceda2f66509e4d3e1a4bd8de2a6f4c43dbf1da5143</citedby><cites>FETCH-LOGICAL-c3570-baa18085dd89adec4a74d15ceda2f66509e4d3e1a4bd8de2a6f4c43dbf1da5143</cites><orcidid>0000-0003-3754-5357</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37114839$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fukuda, Tokiko</creatorcontrib><creatorcontrib>Ito, Tetsuya</creatorcontrib><creatorcontrib>Hamazaki, Takashi</creatorcontrib><creatorcontrib>Inui, Ayano</creatorcontrib><creatorcontrib>Ishige, Mika</creatorcontrib><creatorcontrib>Kagawa, Reiko</creatorcontrib><creatorcontrib>Sakai, Norio</creatorcontrib><creatorcontrib>Watanabe, Yoriko</creatorcontrib><creatorcontrib>Kobayashi, Hironori</creatorcontrib><creatorcontrib>Wasaki, Yosuke</creatorcontrib><creatorcontrib>Taura, Junki</creatorcontrib><creatorcontrib>Imamura, Yuki</creatorcontrib><creatorcontrib>Tsukiuda, Tsutomu</creatorcontrib><creatorcontrib>Nakamura, Kimitoshi</creatorcontrib><title>Blood glucose trends in glycogen storage disease type Ia: A cross‐sectional study</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>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.</description><subject>Blood Glucose</subject><subject>Blood Glucose Self-Monitoring</subject><subject>Cholesterol</subject><subject>continuous glucose monitoring</subject><subject>Cross-Sectional Studies</subject><subject>G6PC gene</subject><subject>Genotypes</subject><subject>Glucose</subject><subject>Glucose monitoring</subject><subject>Glucose-6-Phosphatase - genetics</subject><subject>glucose‐6‐phosphatase</subject><subject>glycemic control</subject><subject>Glycogen</subject><subject>Glycogen Storage Disease Type I - complications</subject><subject>glycogen storage disease type Ia</subject><subject>Humans</subject><subject>Hypoglycemia</subject><subject>Hypoglycemia - complications</subject><subject>Multiple regression analysis</subject><subject>Nutrition</subject><subject>Nutrition therapy</subject><subject>Renal insufficiency</subject><subject>Storage diseases</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><recordid>eNp90MtKw0AUBuBBFK2XjQ8gATciROfMJZm4q_VWUVyo6zCdOSkpaaZmEiQ7H8Fn9ElM2urChasDh4-fc35CDoGeAaXsfJbP7RmwCOgGGYCMeciiSG6SAQUBoUqk3CG73s8opYmScpvs8BhAKJ4MyPNl4ZwNpkVjnMegrrC0PsjLbtMaN8Uy8LWr9BQDm3vUPWkXGIz1RTAMTOW8__r49Gjq3JW66HBj232ylenC48F67pHXm-uX0V348HQ7Hg0fQsNlTMOJ1qCoktaqRFs0QsfCgjRoNcu6B2iCwnIELSZWWWQ6yoQR3E4ysFqC4HvkZJW7qNxbg75O57k3WBS6RNf4lCkaJ4zFUU-P_9CZa6ru4l5xFjGmgHfqdKWWj1WYpYsqn-uqTYGmfdVpX3W6rLrDR-vIZjJH-0t_uu0ArMB7XmD7T1R6P368WoV-Awkoijo</recordid><startdate>202307</startdate><enddate>202307</enddate><creator>Fukuda, Tokiko</creator><creator>Ito, Tetsuya</creator><creator>Hamazaki, Takashi</creator><creator>Inui, Ayano</creator><creator>Ishige, Mika</creator><creator>Kagawa, Reiko</creator><creator>Sakai, Norio</creator><creator>Watanabe, Yoriko</creator><creator>Kobayashi, Hironori</creator><creator>Wasaki, Yosuke</creator><creator>Taura, Junki</creator><creator>Imamura, Yuki</creator><creator>Tsukiuda, Tsutomu</creator><creator>Nakamura, Kimitoshi</creator><general>John Wiley & Sons, Inc</general><general>Blackwell Publishing Ltd</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>K9.</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0003-3754-5357</orcidid></search><sort><creationdate>202307</creationdate><title>Blood glucose trends in glycogen storage disease type Ia: A cross‐sectional study</title><author>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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3570-baa18085dd89adec4a74d15ceda2f66509e4d3e1a4bd8de2a6f4c43dbf1da5143</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Blood Glucose</topic><topic>Blood Glucose Self-Monitoring</topic><topic>Cholesterol</topic><topic>continuous glucose monitoring</topic><topic>Cross-Sectional Studies</topic><topic>G6PC gene</topic><topic>Genotypes</topic><topic>Glucose</topic><topic>Glucose monitoring</topic><topic>Glucose-6-Phosphatase - genetics</topic><topic>glucose‐6‐phosphatase</topic><topic>glycemic control</topic><topic>Glycogen</topic><topic>Glycogen Storage Disease Type I - complications</topic><topic>glycogen storage disease type Ia</topic><topic>Humans</topic><topic>Hypoglycemia</topic><topic>Hypoglycemia - complications</topic><topic>Multiple regression analysis</topic><topic>Nutrition</topic><topic>Nutrition therapy</topic><topic>Renal insufficiency</topic><topic>Storage diseases</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Fukuda, Tokiko</creatorcontrib><creatorcontrib>Ito, Tetsuya</creatorcontrib><creatorcontrib>Hamazaki, Takashi</creatorcontrib><creatorcontrib>Inui, Ayano</creatorcontrib><creatorcontrib>Ishige, Mika</creatorcontrib><creatorcontrib>Kagawa, Reiko</creatorcontrib><creatorcontrib>Sakai, Norio</creatorcontrib><creatorcontrib>Watanabe, Yoriko</creatorcontrib><creatorcontrib>Kobayashi, Hironori</creatorcontrib><creatorcontrib>Wasaki, Yosuke</creatorcontrib><creatorcontrib>Taura, Junki</creatorcontrib><creatorcontrib>Imamura, Yuki</creatorcontrib><creatorcontrib>Tsukiuda, Tsutomu</creatorcontrib><creatorcontrib>Nakamura, Kimitoshi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fukuda, Tokiko</au><au>Ito, Tetsuya</au><au>Hamazaki, Takashi</au><au>Inui, Ayano</au><au>Ishige, Mika</au><au>Kagawa, Reiko</au><au>Sakai, Norio</au><au>Watanabe, Yoriko</au><au>Kobayashi, Hironori</au><au>Wasaki, Yosuke</au><au>Taura, Junki</au><au>Imamura, Yuki</au><au>Tsukiuda, Tsutomu</au><au>Nakamura, Kimitoshi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Blood glucose trends in glycogen storage disease type Ia: A cross‐sectional study</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>2023-07</date><risdate>2023</risdate><volume>46</volume><issue>4</issue><spage>618</spage><epage>633</epage><pages>618-633</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><abstract>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.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>37114839</pmid><doi>10.1002/jimd.12610</doi><tpages>16</tpages><orcidid>https://orcid.org/0000-0003-3754-5357</orcidid></addata></record> |
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| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.618-633 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| source | Wiley-Blackwell Read & Publish Collection |
| 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 |
| title | Blood glucose trends in glycogen storage disease type Ia: A cross‐sectional study |
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