Glycogenic hepatopathy – An underrecognised cause of transaminitis in primary care settings: A case report

Glycogenic hepatopathy (GH) is a rare but reversible hepatic condition associated with poorly controlled type 1 diabetes mellitus (T1DM). It results from excessive glycogen accumulation in hepatocytes, leading to hepatomegaly and elevated liver enzyme levels. We report the case of a 28-year-old man with T1DM who presented to a primary care clinic with persistent transaminitis despite discontinuation of potential hepatotoxic agents. Extensive investigations were conducted to exclude common liver pathologies, all of which returned negative. His condition improved following the intensification of insulin therapy and improvement of glycaemic control. This case underscores the role of family physicians in recognising GH as a differential diagnosis in patients with diabetes mellitus with unexplained liver enzyme abnormalities. It also highlights the importance of timely interventions to prevent unnecessary invasive investigations. Early recognition and appropriate glycaemic management in primary care can reverse the condition and minimise the need for extensive testing.

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Publication Details

Journal
Malaysian Family Physician
Published
2025-08-27
DOI
https://doi.org/10.51866/cr.926
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
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article

Glycogenic hepatopathy – An underrecognised cause of transaminitis in primary care settings: A case report

Rosnani Zakaria, Ying Ying Ng, Zainul Abidin Nordiyana, Samsuddin Noor Aellmas
Malaysian Family Physician
Glycogen Storage Diseases and Myoclonus
article

Glycogenic hepatopathy – An underrecognised cause of transaminitis in primary care settings: A case report

Rosnani Zakaria, Ying Ying Ng, Zainul Abidin Nordiyana, Samsuddin Noor Aellmas
article en

Abstract

Glycogenic hepatopathy (GH) is a rare but reversible hepatic condition associated with poorly controlled type 1 diabetes mellitus (T1DM). It results from excessive glycogen accumulation in hepatocytes, leading to hepatomegaly and elevated liver enzyme levels. We report the case of a 28-year-old man with T1DM who presented to a primary care clinic with persistent transaminitis despite discontinuation of potential hepatotoxic agents. Extensive investigations were conducted to exclude common liver pathologies, all of which returned negative. His condition improved following the intensification of insulin therapy and improvement of glycaemic control. This case underscores the role of family physicians in recognising GH as a differential diagnosis in patients with diabetes mellitus with unexplained liver enzyme abnormalities. It also highlights the importance of timely interventions to prevent unnecessary invasive investigations. Early recognition and appropriate glycaemic management in primary care can reverse the condition and minimise the need for extensive testing.

Malaysian Family PhysicianVol. 20
Universiti Sains Malaysia (MY), Hospital Universiti Sains Malaysia (MY), Malaysia University of Science and Technology (MY)
Openalex Percentile: Top 63%
Glycogen Storage Diseases and Myoclonus
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Glycogenic hepatopathy – An underrecognised cause of transaminitis in primary care settings: A case report — Rosnani Zakaria, Ying Ying Ng, et al. · Malaysian Family Physician (2025) | TGRS Research Map | TGRS