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Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10.

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

Author information

1
Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands. Electronic address: f.j.van.spronsen@umcg.nl.
2
Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
3
Department of PKU, Kennedy Centre, Copenhagen University Hospital, Glostrup, Denmark.
4
Metabolic Diseases Unit, Department of Pediatrics, Hospital Ramon y Cajal, Madrid, Spain.
5
University Children's Hospital, Dietmar-Hoppe Metabolic Centre, Heidelberg, Germany; University Children's Hospital Zurich, Zurich, Switzerland.
6
Department of Paediatrics, Division of Metabolic Disorders, Academic Medical Centre, University Hospital of Amsterdam, Amsterdam, Netherlands.
7
Division of Inherited Metabolic Diseases, Department of Paediatrics, University Hospital of Padova, Padova, Italy.
8
Neuropaediatrics Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
9
Department of Pediatrics, Hôpital d'Enfants Brabois, CHU Nancy, Vandoeuvre les Nancy, France.
10
Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland.
11
Department of Clinical Child and Adolescent Studies-Neurodevelopmental Disorders, Faculty of Social Sciences, Leiden University, Leiden, Netherlands.
12
Clinical Psychology Department, Birmingham Children's Hospital, Birmingham, UK.
13
Department of Pediatrics, Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
14
Internal Medicine Service, CHRU de Tours, François Rabelais University, Tours, France.
15
University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
16
University Children's Hospital, Dietmar-Hoppe Metabolic Centre, Heidelberg, Germany.
17
Department of Dietetics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
18
Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
19
Dietetic Department, Birmingham Children's Hospital, Birmingham, UK.

Abstract

We developed European guidelines to optimise phenylketonuria (PKU) care. To develop the guidelines, we did a literature search, critical appraisal, and evidence grading according to the Scottish Intercollegiate Guidelines Network method. We used the Delphi method when little or no evidence was available. From the 70 recommendations formulated, in this Review we describe ten that we deem as having the highest priority. Diet is the cornerstone of treatment, although some patients can benefit from tetrahydrobiopterin (BH4). Untreated blood phenylalanine concentrations determine management of people with PKU. No intervention is required if the blood phenylalanine concentration is less than 360 μmol/L. Treatment is recommended up to the age of 12 years if the phenylalanine blood concentration is between 360 μmol/L and 600 μmol/L, and lifelong treatment is recommended if the concentration is more than 600 μmol/L. For women trying to conceive and during pregnancy (maternal PKU), untreated phenylalanine blood concentrations of more than 360 μmol/L need to be reduced. Treatment target concentrations are as follows: 120-360 μmol/L for individuals aged 0-12 years and for maternal PKU, and 120-600 μmol/L for non-pregnant individuals older than 12 years. Minimum requirements for the management and follow-up of patients with PKU are scheduled according to age, adherence to treatment, and clinical status. Nutritional, clinical, and biochemical follow-up is necessary for all patients, regardless of therapy.

PMID:
28082082
DOI:
10.1016/S2213-8587(16)30320-5
[Indexed for MEDLINE]

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