Related Experiment Video
Updated: Mar 10, 2026
09:42
Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
Published on: December 23, 2014
22.0K
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
Mariana Pena Costa1, Alexandre Rodrigues Ferreira1, Adriana Teixeira Rodrigues1
1Pediatric's Department, Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil.
American Journal of Medical Genetics. Part A
|March 9, 2026
Summary
Hepatic glycogen storage diseases (GSDs) are diverse, causing growth impairment and overweight issues, particularly in type I. Treatment adherence is crucial for managing metabolic and anthropometric outcomes.
Area of Science:
- Biochemistry and Metabolism
- Pediatric Endocrinology
- Genetics
Background:
- Hepatic glycogen storage diseases (GSDs) encompass a group of inherited metabolic disorders affecting glycogen metabolism.
- These conditions are characterized by the accumulation of glycogen in various tissues, leading to diverse clinical manifestations.
- Understanding the clinical and laboratory spectrum of GSDs is essential for effective patient management.
Purpose of the Study:
- To delineate the clinical and laboratory characteristics of patients with hepatic GSDs.
- To investigate the longitudinal evolution of anthropometric and biochemical parameters in GSD patients.
- To identify differences in disease presentation and progression across various GSD types in a Brazilian cohort.
Main Methods:
- A multicenter, retrospective study was conducted across 13 Brazilian reference centers.
- Data from 132 patients diagnosed with different types of hepatic GSDs were collected using the RedCap platform.
- Clinical and laboratory data, including anthropometric measurements and biochemical markers, were analyzed.
Main Results:
- Type I GSD patients presented earlier and experienced more hypoglycemia. Impaired growth and short stature were observed across types I, III, and IX, with a tendency towards overweight/obesity (BMI z-scores > +1).
- Patients with GSD type IX showed significant improvements in height and BMI z-scores during follow-up.
- Metabolic improvements, including decreased total cholesterol, triglycerides, venous lactate, and aminotransferases, were noted in types I and IX GSD patients.
Conclusions:
- Hepatic GSDs are heterogeneous, presenting with significant growth impairment and a propensity for overweight/obesity, especially in type I.
- While metabolic parameters like aminotransferases, cholesterol, and triglycerides improve with treatment, adherence remains a challenge.
- Longitudinal follow-up reveals distinct evolutionary patterns and treatment responses among different GSD types.
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