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Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria

D Dobbelaere1, L Michaud, A Debrabander

  • 1Unit of Metabolic Disease, Department of Pediatrics, Lille University Children's Hospital and Faculty of Medicine, Lille, France. d-dobbelaere@chru-lille.fr

Journal of Inherited Metabolic Disease
|July 23, 2003
PubMed

Insights

Growth retardation in phenylketonuria (PKU) patients is common but not linked to hormonal or caloric issues. Further research is needed to explore nutrient supplementation, particularly zinc, for improving growth in PKU individuals.

Area of Science:

  • Pediatrics
  • Metabolic Disorders
  • Nutritional Science

Background:

  • Phenylketonuria (PKU) is a metabolic disorder requiring a low-phenylalanine (Phe) diet.
  • Growth retardation is frequently observed in PKU patients during early childhood on restricted diets.
  • Previous studies indicated potential links between diet, hormones, and growth in PKU.

Purpose of the Study:

  • To evaluate the growth status of PKU patients.
  • To investigate potential nutritional and hormonal factors contributing to growth delay in PKU.
  • To identify correlations between dietary intake, blood levels, and growth parameters.

Main Methods:

  • Cross-sectional study of 20 PKU patients (8 months to 7 years).
  • Assessment of anthropometric measurements (W/H, H/A, W/A Z-scores) and body composition (FFM, FFMA).
  • Measurement of thyroid hormones, IGF1, IGFBP3, selenium, zinc, and Phe blood levels; dietary intake recorded over 4 days.

Main Results:

  • PKU patients exhibited moderate but significant short stature and lower weight compared to reference populations.
  • Body composition, hormonal levels (thyroid, IGF1, IGFBP3), and energy/protein intake were within normal ranges.
  • Patients showed adequate selenium intake but marked zinc deficiency; however, no correlation was found between zinc status and growth retardation.

Conclusions:

  • Growth retardation in PKU patients is not attributable to hormonal deficiencies or inadequate caloric/protein intake.
  • Zinc deficiency was prevalent but not directly correlated with growth delay in this cohort.
  • Further research is warranted to explore the efficacy of specific nutrient supplementation regimens, especially zinc, in improving PKU patient growth.

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