Department of Pediatrics, Medical Genetics and Metabolic Division, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail.
Saudi Med J. 2020 Feb;41(2):199-202. doi: 10.15537/smj.2020.2.24885.
To draw attention towards fructose-1,6-bisphosphatase (FBPase) deficiency as an important cause of hypoglycemia and lactic acidosis and to implement preventive strategies. Methods: This observational, cross-sectional study was conducted on 7 Saudi patients with genetically confirmed FBPase deficiency from 2008 to 2018 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. Results: Participants ranged in age from 1-10 years, and all presented with recurrent hypoglycemia. All but one had associated severe metabolic acidosis, and 3 patients (42.9%) presented with hypoglycemia and severe acidosis since birth. The mean duration from presentation to diagnosis was 39.4 months, as other diagnoses, like glycogen storage diseases and mitochondrial diseases needed to be ruled out. Development was normal apart from speech delay in one patient with a novel variant of the FBP1 gene. All patients have homozygous variants in the FBP1 gene. Conclusion: Fructose-1,6-bisphosphatase is an important cause of hypoglycemia and acidosis; therefore, it is important to offer early molecular diagnostics in any child presenting with these symptoms. Molecular diagnostics should always be undertaken to confirm the diagnosis and for further preventive strategies.
引起人们对果糖-1,6-二磷酸酶（FBPase）缺乏作为低血糖和乳酸性酸中毒的重要原因的关注，并实施预防策略。
本观察性、横断面研究于 2008 年至 2018 年在沙特阿拉伯利雅得的苏丹亲王军事医学城对 7 名经基因证实的 FBPase 缺乏的沙特患者进行。
参与者的年龄在 1-10 岁之间，均表现为反复低血糖。除 1 例外，所有人均伴有严重代谢性酸中毒，3 例（42.9%）自出生以来即出现低血糖和严重酸中毒。从出现症状到诊断的平均时间为 39.4 个月，因为需要排除其他诊断，如糖原贮积病和线粒体疾病。除 1 名具有 FBP1 基因新变异的患者外，所有患者的 FBP1 基因均为纯合变异。
果糖-1,6-二磷酸酶是低血糖和酸中毒的重要原因；因此，对于出现这些症状的任何儿童，提供早期分子诊断非常重要。应始终进行分子诊断以确认诊断并采取进一步的预防策略。
