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; Ramazan Sarı

doi:10.1007/s11845-024-03614-8

An extremely rare case of hypoglycemia with a novel mutation and review of the literature: fructose-1,6 bisphosphatase deficiency in an adult man

Ir J Med Sci. 2024 Jan 25. doi: 10.1007/s11845-024-03614-8. Online ahead of print.

Authors

Hakan Doğruel¹, Mustafa Aydemir², Nusret Yılmaz³, Ramazan Sarı²

Affiliations

¹ Endocrinology and Metabolism, Antalya City Hospital, Antalya, 07080, Turkey.
² Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey.
³ Division of Endocrinology and Metabolism, Department of Internal Medicine, Faculty of Medicine, Akdeniz University, Antalya, 07070, Turkey. nusretyilmaz@akdeniz.edu.tr.

PMID: 38273074
DOI: 10.1007/s11845-024-03614-8

Abstract

Hypoglycemia 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.

Keywords: Fructose 1,6 bisphosphatase; Gluconeogenesis; Hypoglycemia; Metabolic disorder.

Publication types

Review