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Background <p>Growth retardation is common in glycogen storage disease (GSD), though the relative contributions of hormonal and metabolic factors remain unclear. We compared clinical and biochemical features between GSD I and non-GSD I patients and identified independent predictors of height standard deviation score (SDS).</p> Methods <p>Thirty-eight children with GSD (24 with GSD I; 14 with GSD III/VI/IX; mean age: 7.5 years) underwent evaluation of height SDS, BMI SDS, IGF1 SDS, and metabolic parameters. After excluding three patients with inflammatory bowel disease (final <i>n</i> = 35), multiple regression was used to identify factors associated with height SDS. In GSD I (<i>n</i> = 24), Lasso regression selected variables, and 1,000 bootstrap resamples assessed coefficient stability.</p> Results <p>GSD I patients had lower height SDS (–2.30 vs. − 1.17; <i>p</i> = 0.021) and higher lactate (3.94 vs. 1.48 mmol/L; <i>p</i> &lt; 0.001), uric acid (431.04 vs. 283.79µmol/L; <i>p</i> &lt; 0.001) and triglyceride levels (2.38 vs. 1.29 mmol/L, <i>p</i> = 0.002) compared to non-GSD I. In combined-cohort regression, lactate was the only independent negative predictor of height SDS (<i>p</i> = 0.011); glucose levels and IGF1 SDS did not reach statistical significance. In GSD I, Lasso retained lactate (β = − 0.682), glucose (β = − 0.625), and IGF1 SDS (β = 0.524), and bootstrap validation showed only IGF1 SDS remained consistently significant.</p> Conclusions <p>Hyperlactatemia is significant predictor of growth impairment in GSD, while IGF1 is a stable predictor in GSD I. These findings highlight metabolic and hormonal targets for future hypothesis-driven research in this population.</p>

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Growth impairment in glycogen storage disease type I versus types III/VI/IX: a cross-sectional study

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  • 发表日期：

    2025年10月6日

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  • Xiaohui Wu,
  • Yueyu Sun,
  • Min Yang

摘要

Background

Growth retardation is common in glycogen storage disease (GSD), though the relative contributions of hormonal and metabolic factors remain unclear. We compared clinical and biochemical features between GSD I and non-GSD I patients and identified independent predictors of height standard deviation score (SDS).

Methods

Thirty-eight children with GSD (24 with GSD I; 14 with GSD III/VI/IX; mean age: 7.5 years) underwent evaluation of height SDS, BMI SDS, IGF1 SDS, and metabolic parameters. After excluding three patients with inflammatory bowel disease (final n = 35), multiple regression was used to identify factors associated with height SDS. In GSD I (n = 24), Lasso regression selected variables, and 1,000 bootstrap resamples assessed coefficient stability.

Results

GSD I patients had lower height SDS (–2.30 vs. − 1.17; p = 0.021) and higher lactate (3.94 vs. 1.48 mmol/L; p < 0.001), uric acid (431.04 vs. 283.79µmol/L; p < 0.001) and triglyceride levels (2.38 vs. 1.29 mmol/L, p = 0.002) compared to non-GSD I. In combined-cohort regression, lactate was the only independent negative predictor of height SDS (p = 0.011); glucose levels and IGF1 SDS did not reach statistical significance. In GSD I, Lasso retained lactate (β = − 0.682), glucose (β = − 0.625), and IGF1 SDS (β = 0.524), and bootstrap validation showed only IGF1 SDS remained consistently significant.

Conclusions

Hyperlactatemia is significant predictor of growth impairment in GSD, while IGF1 is a stable predictor in GSD I. These findings highlight metabolic and hormonal targets for future hypothesis-driven research in this population.