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Can Liver J. 2024 Feb 26;7(1):54-63. doi: 10.3138/canlivj-2023-0018. eCollection 2024 Feb.
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Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapies.I型糖原贮积病：遗传病因、临床表现以及传统治疗和基因治疗
Pediatr Discov. 2023;1(2). doi: 10.1002/pdi3.3. Epub 2023 Jul 24.
3
Hypoglycemia in Children: Major Endocrine-Metabolic Causes and Novel Therapeutic Perspectives.儿童低血糖症：主要的内分泌代谢病因和新的治疗观点。
Nutrients. 2023 Aug 11;15(16):3544. doi: 10.3390/nu15163544.
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Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges.线粒体脂肪酸氧化障碍研究五十年：尚存的挑战。
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French recommendations for the management of glycogen storage disease type III.法国关于 III 型糖原贮积症管理的建议。
Eur J Med Res. 2023 Jul 24;28(1):253. doi: 10.1186/s40001-023-01212-5.
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10
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以儿童期低血糖为表现的代谢性肝病：肝病专家指南

Metabolic Liver Diseases Presenting as Pediatric Onset Hypoglycemia: A Hepatologist's Primer.

作者信息

Verma Snigdha, Sood Vikrant, Lal Bikrant B, Khanna Rajeev, Alam Seema

机构信息

Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Delhi, India.

出版信息

J Clin Exp Hepatol. 2025 Jan-Feb;15(1):102425. doi: 10.1016/j.jceh.2024.102425. Epub 2024 Oct 11.

DOI:10.1016/j.jceh.2024.102425
PMID:39553835
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11566850/
Abstract

Hypoglycemia, especially when recurrent or persistent, is an important indicator of inborn metabolic errors. Although commonly encountered by hepatologists, it continues to be a pandora's box as no consensus on the exact definition and diagnostic work up exists. Here, we present four interesting pediatric cases of varied age groups, presenting with hypoglycemia as their major symptomatology. We also attempted to provide a systematic diagnostic guide for a refined and targeted approach to inherited metabolic liver diseases presenting with hypoglycemia.

摘要

低血糖，尤其是反复发生或持续存在时，是先天性代谢缺陷的重要指标。尽管肝病学家经常遇到这种情况，但它仍然是一个潘多拉魔盒，因为对于确切的定义和诊断检查尚无共识。在此，我们展示了四个不同年龄组的有趣儿科病例，均以低血糖为主要症状。我们还试图为以低血糖为表现的遗传性代谢性肝病提供一种系统的诊断指南，以采取精确且有针对性的方法。