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Background/Objectives <p>Glycogen storage diseases type VI (GSD-VI) and type IX (GSD-IX) are rare inherited metabolic disorders caused by enzyme deficiencies that disrupt glycogen metabolism. The aim of this study was to analyze the clinical features, nutritional management and geno-phenotyping of clinical nutrition in a cohort of patients with GSD-VI and GSD-IX.</p> Subjects/Methods <p>A retrospective cohort study was conducted with 16 patients with GSD-VI and GSD-IX. Demographic characteristics, clinical and laboratory findings, and nutritional treatment outcomes were collected and analyzed.</p> Results <p>The mean patient age was 10.57 years (±4.81). The distribution of the diagnoses was as follows: GSD-IXa (3), GSD-IXb (6), GSD-IXc (1), and GSD-VI (6). The average age at diagnosis was 36.5 months (±42.2) (13–114 months) in the GSD-VI group. Among the GSD-IX subgroups, the mean age at diagnosis varied: 23.3months (±4.16) for GSD-IXa, 35.7months (±17.5) for GSD-IXb, and 78months for GSD-IXc. Over the course of the study (4.5 ± 1.77 years), protein intake in GSD VI patients increased by 1.05 g/kg/day (91.3% increase), while in GSD IX patients, it rose by 1.09 g/kg/day (94% rise). Uncooked cornstarch (UCS) started at 1 g/kg/day for GSD-VI and 0.85 g/kg/day for GSD-IX, later reduced to 0.71 g/kg/day (29% decrease) and 0.52 g/kg/day (60% reduction), respectively.</p> Conclusion <p>Overall, this paper provides valuable insights into managing GSDVI and GSDIX patients, emphasizing the role of a high-protein diet aligned with the disease’s pathophysiology and the potential of genotyping to enhance nutritional treatment protocols.</p>

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Nutritional management and geno-phenotyping of clinical nutrition in patients with glycogen storage diseases type VI and IX

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月10日

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  • Sema Kalkan Uçar,
  • Alperen Elek,
  • Havva Yazıcı,
  • Yasemin Atik Altınok,
  • Ayşe Yüksel Yanbolu,
  • Fehime Erdem,
  • Merve Yoldaş Çelik,
  • Ayça Aykut,
  • Asude Durmaz,
  • Ebru Canda,
  • Mahmut Çoker

摘要

Background/Objectives

Glycogen storage diseases type VI (GSD-VI) and type IX (GSD-IX) are rare inherited metabolic disorders caused by enzyme deficiencies that disrupt glycogen metabolism. The aim of this study was to analyze the clinical features, nutritional management and geno-phenotyping of clinical nutrition in a cohort of patients with GSD-VI and GSD-IX.

Subjects/Methods

A retrospective cohort study was conducted with 16 patients with GSD-VI and GSD-IX. Demographic characteristics, clinical and laboratory findings, and nutritional treatment outcomes were collected and analyzed.

Results

The mean patient age was 10.57 years (±4.81). The distribution of the diagnoses was as follows: GSD-IXa (3), GSD-IXb (6), GSD-IXc (1), and GSD-VI (6). The average age at diagnosis was 36.5 months (±42.2) (13–114 months) in the GSD-VI group. Among the GSD-IX subgroups, the mean age at diagnosis varied: 23.3months (±4.16) for GSD-IXa, 35.7months (±17.5) for GSD-IXb, and 78months for GSD-IXc. Over the course of the study (4.5 ± 1.77 years), protein intake in GSD VI patients increased by 1.05 g/kg/day (91.3% increase), while in GSD IX patients, it rose by 1.09 g/kg/day (94% rise). Uncooked cornstarch (UCS) started at 1 g/kg/day for GSD-VI and 0.85 g/kg/day for GSD-IX, later reduced to 0.71 g/kg/day (29% decrease) and 0.52 g/kg/day (60% reduction), respectively.

Conclusion

Overall, this paper provides valuable insights into managing GSDVI and GSDIX patients, emphasizing the role of a high-protein diet aligned with the disease’s pathophysiology and the potential of genotyping to enhance nutritional treatment protocols.