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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.

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PubMed
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.

Keywords:
glycogen storage disease type Iglycogen storage disease type IIIglycogen storage disease type IX

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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.