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http://dx.doi.org/10.51821/86.3.12257 | DOI Listing |
J Clin Exp Hepatol
December 2024
Departments of Pediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Introduction: Glycerol-3-phosphate dehydrogenase 1 (GPD1) deficiency is an autosomal recessive disorder causing hypertriglyceridemia, hepatomegaly, fatty liver, and hepatic fibrosis in infancy. It is an under-recognized cause of pediatric steatotic liver disease (SLD) with only 36 cases reported worldwide.
Method: We analyzed the clinical profile of our five cases diagnosed by exome sequencing (ES) and reviewed the published cases till December 2023 using PubMed search.
World J Hepatol
November 2024
Department of Gastroenterology and Hepatology, Geneva University Hospitals, Geneva 1205, Switzerland.
Acta Gastroenterol Belg
November 2023
Department of Gastroenterology and Hepatology, AZ Delta, Belgium.
Ann Diagn Pathol
June 2023
Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, 8700 Beverly Blvd., Los Angeles, CA 90048, United States of America. Electronic address:
Objectives: This study examines the clinical-pathological profiles of patients with glycogenic hepatopathy in a contemporary cohort of patients at an adult acute care hospital.
Methods: Liver biopsies with glycogenic hepatopathy were retrieved from the departmental surgical pathology database, the histological findings were studied, and the clinical findings were reviewed.
Results: Five cases of glycogenic hepatopathy were found, including cases associated with type 1 diabetes mellitus (n = 1), type 2 diabetes mellitus (n = 1), corticosteroids (n = 2), and anorexia (n = 2, including the patient with type 1 diabetes).
Cureus
April 2022
Intensive Care Medicine Department, Centro Hospitalar Universitário São João, Porto, PRT.
Hepatic glycogenosis (HG) is a rare complication of long-standing poorly controlled type 1 diabetes mellitus (T1DM), which is often misdiagnosed as non-alcoholic fatty liver disease (NAFLD). Despite the existence of several reports in the literature, it still is underrecognized, even among gastroenterologists. Differential diagnosis between these entities is essential since they have different prognoses.
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