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Review Case Reports
An extremely rare case of hypoglycemia with a novel mutation and review of the literature: fructose-1,6 bisphosphatase deficiency in an adult man.
- Hakan Doğruel, Mustafa Aydemir, Nusret Yılmaz, and Ramazan Sarı.
- Endocrinology and Metabolism, Antalya City Hospital, Antalya, 07080, Turkey.
- Ir J Med Sci. 2024 Jun 1; 193 (3): 126712731267-1273.
AbstractHypoglycemia is an uncommon clinical problem among non-diabetic patients. It requires systematic evaluation to determine the etiology. It may be related to critical illness, hepatic insufficiency, renal insufficiency, cardiac insufficiency, drugs, alcohol, cortisol insufficiency, growth hormone insufficiency, insulinoma, gastric bypass surgery, and paraneoplastic (insulin-like growth factor-2-related) immune-mediated or inherited metabolic disorders. We aimed to summarize the literature and present a case who suffered from hypoglycemia throughout his life and was diagnosed with fructose-1, 6 bisphosphatase deficiency in adulthood to attract attention to the rare causes of hypoglycemia in adulthood.© 2024. The Author(s), under exclusive licence to Royal Academy of Medicine in Ireland.
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