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Outcomes of Phenylketonuria with Relevance to Follow-Up

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JIMD Reports - Case and Research Reports, 2011/1

Part of the book series: JIMD Reports ((JIMD,volume 1))

Abstract

Currently, there is no international consensus on how patients with phenylketonuria (PKU) (or milder forms of hyperphenylalaninaemia) should be followed in clinical practice. Guidelines concerning the frequency and type of assessments that should be made according to age usually focus on blood phenylalanine concentrations. A need exists for improved guidelines on how to do the follow-up of individuals with PKU/milder forms of hyperphenylalaninaemia. An interdisciplinary approach for monitoring patients is required, involving relevant clinical investigations and regular contact with a clinician and dietician/nutritionist as well as contact with social health worker, psychologist and neurologist, at least at request. This chapter presents a scheme for follow-up. However, by no means this scheme aims to present the one for all time follow-up programme. The scheme for follow-up may rather serve as a start for further discussion in larger groups of professionals in collaboration with patients and their parents. A number of questions remain unanswered, and further research is still needed to fine-tune the management of PKU at different ages.

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Abbreviations

IQ:

Intelligence quotient

MHP:

Mild hyperphenylalaninaemia

MRI:

Magnetic resonance imaging

MRS:

Magnetic resonance spectroscopy

PAH:

Phenylalanine hydroxylase

Phe:

Phenylalanine

PKU:

Phenylketonuria

QoL:

Quality of life

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Authors and Affiliations

  1. Beatrix Children’s Hospital, University Medical Center of Groningen, Groningen, The Netherlands

    F. J. van Spronsen

  2. Unidad de Enfermedades Metabólicas, Servicio de Pediatría, Hospital Ramón y Caja, Madrid, Spain

    A. Bélanger-Quintana

Authors
  1. F. J. van Spronsen
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  2. A. Bélanger-Quintana
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Correspondence to F. J. van Spronsen .

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    Competing Interests

    Competing Interests

    Francjan van Spronsen and Amaya Bélanger-Quintana are both members of the scientific advisory board of Merck Serono S.A. – Geneva, Switzerland (an affiliate of Merck KGaA, Darmstadt, Germany) regarding treatment for phenylketonuria. Francjan J van Spronsen received grants and honoraria from Milupa, Scientific Hospital Supplies, Nutricia, and Merck Serono S.A. Amaya Bélanger-Quintana received grants from Mead-Johnson and Merck Serono S.A.

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    van Spronsen, F.J., Bélanger-Quintana, A. (2011). Outcomes of Phenylketonuria with Relevance to Follow-Up. In: JIMD Reports - Case and Research Reports, 2011/1. JIMD Reports, vol 1. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_16

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    • DOI: https://doi.org/10.1007/8904_2011_16

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    • Publisher Name: Springer, Berlin, Heidelberg

    • Print ISBN: 978-3-642-17707-1

    • Online ISBN: 978-3-642-17708-8

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