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New insights in growth of phenylketonuric patients

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Abstract

Treatment of phenylketonuria involves a restriction in the intake of natural proteins. This can lead to growth impairment. Weight, height and body mass index of 109 hyperphenylalaninemic patients (mild hyperphenylalaninemia (HPA) and phenylketonuria (PKU)) were determined from birth until 18 years, every 6 months, and differences to the healthy population, depending on the age, sex and phenotype, were analyzed. Data collection was longitudinal retrospective during 31 years. Statistical analysis of z-score values was performed by advanced statistical tools. Long-term evolution of anthropometric z-scores showed no significant statistical differences between PKU and mild HPA individuals, according to the general population. For PKU individuals, height is slightly lower and weight slightly higher than in the healthy population, but differences are smaller than one standard deviation. Nevertheless, over-time evolutions of female height z-scores are different in each type of pathology, with a crossover between 8 and 12 years (p = 0.0186).

Conclusions: It is nowadays possible to achieve a long-term normal growth in PKU patients with appropriate dietary treatment. There is however an acceleration of growth up to 8 years old for PKU female patients that leads to a slightly lower final height. Detection of this behaviour was possible by using nonlinear mixed effects models.

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Abbreviations

BH4:

6R-5,6,7,8-tetrahydrobiopterin

BMI:

Body mass index

HPA:

Hyperphenylalaninemia

MHPA:

Mild hyperphenylalaninemia

Phe:

Phenylalanine

PKU:

Phenylketonuria

RDA:

Recommended dietary allowances

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Acknowledgments

The authors are very grateful to all the patients and their families for kindly participating in the study.

Conflict of interest

None of the authors have any conflicts of interest to declare. The research has not received external funding from any public or private institutions.

Author information

Authors and Affiliations

  1. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, A Choupana s/n,, 15706, Santiago de Compostela, A Coruña, Spain

    María L. Couce, Marta Lojo, Alicia Mirás, Alejandro Pérez-Muñuzuri & José M. Fraga

  2. Clinical Epidemiology Unit, Hospital Clinico Universitario de Santiago, Spain, Travesía da Choupana s/n, 15706, Santiago de Compostela, A Coruña, Spain

    Ipek Guler & Francisco Gude

  3. Institute for Process and Particle Engineering, Graz University of Technology, Inffeldgasse 21b, 8010, Graz, Austria

    Andrés Anca-Couce

  4. Unit of Nutrition and Metabolism, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Santiago de Compostela, Spain

    Rosaura Leis

Authors
  1. María L. Couce
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  2. Ipek Guler
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  3. Andrés Anca-Couce
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  4. Marta Lojo
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  7. Alejandro Pérez-Muñuzuri
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  9. Francisco Gude
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Corresponding author

Correspondence to María L. Couce.

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Communicated by Beat Steinmann

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Couce, M.L., Guler, I., Anca-Couce, A. et al. New insights in growth of phenylketonuric patients. Eur J Pediatr 174, 651–659 (2015). https://doi.org/10.1007/s00431-014-2446-8

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  • DOI: https://doi.org/10.1007/s00431-014-2446-8

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