First evaluation of fibroblast growth factor 21 levels in patients diagnosed with glycogen storage diseases with liver involvement
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Abdullah Bozkurt
,
Esra Kara
,
Fatma Derya Bulut
,
İrem Kaplan
,
Ezgi Burgac
,
Burcu Köseci
,
Nazmiye Tüzel Gündüz
,
Gülçin Dağlıoğlu
,
Gülşah Seydaoğlu
,
Halise Neslihan Önenli Mungan
and
Deniz Kor
Abstract
Objectives
Glycogen storage diseases (GSDs) are inherited metabolic disorders caused by deficiencies in the enzymes responsible for glycogen synthesis and breakdown. GSD subtypes involving the liver are commonly associated with symptoms such as fasting hypoglycemia and hepatomegaly, and medical nutrition therapy remains the gold standard of treatment. Fibroblast growth factor 21 (FGF21), a hormone primarily secreted by the liver, plays a key role in regulating lipid, glucose, and energy metabolism. This study measured FGF21 levels in patients with hepatic forms of GSD at Çukurova University, evaluating differences among GSD subtypes and their correlations with biochemical parameters.
Methods
The study included 50 patients with hepatic GSD who were categorized by subtypes: 10 with type Ia, 2 with type Ib, 16 with type III, 3 with type VI, 8 with type IXa, 4 with type IXb, and 7 with type IXc. Serum FGF21 levels were measured, and their associations with biochemical findings, abdominal imaging results, and growth parameters were evaluated.
Results
Of the 50 patients, 52 % were female and 48 % male. The mean age at admission was 142.26 ± 76.19 months (range: 23–360 months). Common reasons for admission included abdominal distension, hepatomegaly, hypoglycemia, and growth retardation. The average FGF21 level across all patients was 318.3 ± 126.9 pg/mL, with the highest levels observed in patients with GSD type IXc (464.31 ± 112.88 pg/mL), followed by those with type IXa (343.35 ± 137.18 pg/mL) and type III (323.80 ± 116.04 pg/mL). Patients with GSD type IXc had significantly higher FGF21 levels than those with other subtypes (p=0.001).
Conclusions
This is the first study to evaluate FGF21 levels in patients with GSD. FGF21 levels in this cohort were comparable to those observed in patients with acute fatty liver disease and hepatosteatosis. Although no statistically significant differences were observed across most GSD subtypes, patients with GSD type IXc exhibited notably higher FGF21 levels, indicating that FGF21 may serve as a biomarker for identifying more severe phenotypes of GSD.
Acknowledgments
This work has been supported by the Scientific Research Projects Coordination Unit of Cukurova University (project number: TTU-2023-15372).
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Research ethics: This study was conducted in accordance with the Declaration of Helsinki. The study protocol was approved by the Ethics Committee of Cukurova University.
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Informed consent: Written informed consent was obtained from the patients’ parents or care givers.
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Author contributions: Concept – A.B., F.D.B., H.N.Ö.M., D.K.; Design – A.B., E.K., F.D.B., İ.K., E.B., B.K., N.T.G., G.D., G.S., H.N.Ö.M, D.K.; Data Collection or Processing – A.B., E.K., F.D.B., İ.K., E.B., B.K., N.T.G., G.D., G.S., H.N.Ö.M, D.K.; Analysis or Interpretation – A.B., E.K., F.D.B., İ.K., E.B., B.K., N.T.G., G.D., G.S., H.N.Ö.M, D.K.; Literature Search – A.B., E.K., F.D.B., İ.K., E.B., B.K., N.T.G., G.D., G.S., H.N.Ö.M, D.K.; Writing – G.D., G.S., F.D.B., H.N.Ö.M., D.K.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: None declared.
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