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Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.

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العنوان: Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment.
المؤلفون: Tallis E; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA., Karsenty CL; Department of Pediatrics Baylor College of Medicine Houston Texas USA.; Texas Children's Cancer and Hematology Centers Houston Texas USA., Grimes AB; Department of Pediatrics Baylor College of Medicine Houston Texas USA.; Texas Children's Cancer and Hematology Centers Houston Texas USA., Karam LB; Department of Pediatrics-Gastroenterology Baylor College of Medicine Houston Texas USA., Elsea SH; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA.; Baylor Genetics Houston Texas USA., Sutton VR; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA.; Baylor Genetics Houston Texas USA., Rawls-Castillo BL; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA., Liu N; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA.; Baylor Genetics Houston Texas USA., Soler-Alfonso C; Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA.
المصدر: JIMD reports [JIMD Rep] 2022 May 22; Vol. 63 (4), pp. 309-315. Date of Electronic Publication: 2022 May 22 (Print Publication: 2022).
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE
أسماء مطبوعة: Publication: 2019- : [Hoboken, NJ] : Wiley
Original Publication: Berlin : SSIEM and Springer-Verlag, c2011.
مستخلص: Glycogen storage disease type Ib (GSD-Ib) is a rare inborn error of glycogen metabolism uniquely associated with neutropenia and neutrophil dysfunction, causing severe infections, inflammatory bowel disease (IBD), and impaired wound healing. Recently, kidney sodium-glucose co-transporter-2 (SGLT2) inhibitors such as empagliflozin known to reduce plasma levels of 1,5-anhydroglucitol (1,5-AG) and its toxic derivatives in neutrophils, have been described as a new treatment option in case reports of patients with GSD-Ib from Europe and Asia. We report our experience with an 11-year-old girl with GSD-Ib presenting with short fasting hypoglycemia, neutropenia with neutrophil dysfunction, recurrent infections, suboptimal growth, iron-deficiency anemia, and IBD. Treatment with daily empagliflozin improved neutrophil counts and function with a significant reduction in G-CSF needs. Significant improvement in IBD has led to weight gain with improved nutritional markers and improved fasting tolerance. Reduction of maximum empagliflozin dose was needed due to arthralgia. No other significant side effects of empagliflozin were observed. This report uniquely highlights the novel use of untargeted metabolomics profiling for monitoring plasma levels of 1,5-AG to assess empagliflozin dose responsiveness and guide dietary management and G-CSF therapy. Clinical improvement correlated to rapid normalization of 1,5-AG levels in plasma sustained after dose reduction. In conclusion, empagliflozin appeared to be a safe treatment option for GSD-Ib-associated neutropenia and neutrophil dysfunction. Global untargeted metabolomics is an efficient method to assess biochemical responsiveness to treatment.
Competing Interests: Eran Tallis declares that he has no conflict of interest. Cecile L. Karsenty declares that he has no conflict of interest. Amanda B. Grimes declares that he has no conflict of interest. Lina B. Karam declares that he has no conflict of interest. Sarah H. Elsea declares that he has no conflict of interest. V. Reed Sutton declares that he has no conflict of interest. Brandy L. Rawls‐Castillo declares that he has no conflict of interest. Ning Liu declares that he has no conflict of interest. Claudia Soler‐Alfonso declares that he has no conflict of interest.
(© 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.)
References: Blood. 2003 Jun 15;101(12):5021-4. (PMID: 12576310)
Pediatr Hematol Oncol. 2018 Feb;35(1):45-51. (PMID: 29652549)
J Mass Spectrom. 2018 Nov;53(11):1143-1154. (PMID: 30242936)
J Pediatr. 2000 Aug;137(2):187-91. (PMID: 10931410)
Pediatr Int. 2021 Nov;63(11):1394-1396. (PMID: 34378838)
J Inherit Metab Dis. 2015 May;38(3):511-9. (PMID: 25288127)
Curr Opin Hematol. 2010 Jan;17(1):36-42. (PMID: 19741523)
Orphanet J Rare Dis. 2020 Aug 24;15(1):218. (PMID: 32838757)
Am J Gastroenterol. 2010 Sep;105(9):2085-92. (PMID: 20372111)
Genet Med. 2014 Nov;16(11):e1. (PMID: 25356975)
Blood. 2014 May 1;123(18):2843-53. (PMID: 24565827)
J Appl Lab Med. 2020 Mar 1;5(2):342-356. (PMID: 32445384)
Diabetes Care. 2013 Oct;36(10):3169-76. (PMID: 23735727)
Expert Rev Mol Diagn. 2008 Jan;8(1):9-19. (PMID: 18088226)
Scand J Clin Lab Invest Suppl. 1990;201:55-62. (PMID: 2244184)
J Inherit Metab Dis. 2022 Mar;45(2):235-247. (PMID: 34671989)
J Pediatr Gastroenterol Nutr. 1991 May;12(4):439-47. (PMID: 1678008)
FEBS Lett. 2020 Jan;594(1):3-18. (PMID: 31705665)
Ital J Pediatr. 2021 Jul 2;47(1):149. (PMID: 34215305)
Curr Opin Hematol. 2019 Jan;26(1):16-21. (PMID: 30451720)
Nat Rev Endocrinol. 2010 Dec;6(12):676-88. (PMID: 20975743)
Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1241-1250. (PMID: 30626647)
Biochem Biophys Res Commun. 2017 Jan 22;482(4):569-574. (PMID: 27864142)
Blood. 2020 Aug 27;136(9):1033-1043. (PMID: 32294159)
Am J Physiol. 1992 Aug;263(2 Pt 1):E268-73. (PMID: 1514606)
فهرسة مساهمة: Keywords: global metabolomics; hypoglycemia; inborn errors of metabolism; inflammatory bowel disease; neutropenia
تواريخ الأحداث: Date Created: 20220713 Latest Revision: 20220716
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC9259396
DOI: 10.1002/jmd2.12304
PMID: 35822097
قاعدة البيانات: MEDLINE
الوصف
تدمد:2192-8304
DOI:10.1002/jmd2.12304