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Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations

Centro de Genética Médica, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, Portugal
Centro de Referência na Área de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto-CHUPorto, 4099-001 Porto, Portugal
Núcleo de Ações e Pesquisa em Apoio Diagnóstico (NUPAD), School of Medicine, Federal University of Minas Gerais (UFMG), Avenida Professor Alfredo Balena, 190, Belo Horizonte 30130-100, Brazil
Hospital das Clínicas, UFMG, Avenida Professor Alfredo Balena, 110, Santa Efigênia, Belo Horizonte 30130-100, Brazil
Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto-UMIB/ICBAS/UP, 4050-313 Porto, Portugal
Birmingham Women’s and Children’s Hospital, Birmingham B4 6NH, UK
Nutrition & Metabolism, NOVA Medical School, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Campo Mártires da Pátria, 130, 1169-056 Lisbon, Portugal
Centre for Health Technology and Services Research (CINTESIS), 4200-450 Porto, Portugal
Author to whom correspondence should be addressed.
Academic Editor: Gary David Lopaschuk
Nutrients 2021, 13(9), 3118;
Received: 26 July 2021 / Revised: 28 August 2021 / Accepted: 1 September 2021 / Published: 6 September 2021
(This article belongs to the Special Issue Diet Therapy and Nutritional Management of Phenylketonuria)
Blood phenylalanine (Phe) is used as the primary marker to evaluate metabolic control. Our study aimed to describe the metabolic control of patients with phenylketonuria (PKU) comparing three different treatment recommendations (European guidelines/US guidelines/Portuguese consensus). This was a retrospective, observational, single centre study in patients with PKU collecting data on blood Phe levels from 2017. Nutritional intake data and sapropterin (BH4) prescription were collected at the last appointment of 2017. The final sample studied included 87 patients (48% females) [13 hyperphenylalaninemia; 47 mild PKU; 27 classical PKU] with a median age of 18 y (range: 1–36 y). The median number of blood Phe measurements for patients was 21 (range: 6–89). In patients aged < 12 y, the median blood Phe level was 300 μmol/L (range 168–480) and 474 μmol/L (range 156–1194) for patients ≥ 12 y. Overall, a median of 83% of blood Phe levels were within the European PKU guidelines target range. In patients aged ≥ 12 years, there was a higher median % of blood Phe levels within the European PKU guidelines target range (≥12 y: 84% vs. <12 y: 56%). In children < 12 y with classical PKU (n = 2), only 34% of blood Phe levels were within target range for all 3 guidelines and 49% with mild PKU (n = 11). Girls had better control than boys (89% vs. 66% median Phe levels within European Guidelines). Although it is clear that 50% or more patients were unable to achieve acceptable metabolic control on current treatment options, a globally agreed upper Phe target associated with optimal outcomes for age groups is necessary. More studies need to examine how clinics with dissimilar resources, different therapeutic Phe targets and frequency of monitoring relate to metabolic control. View Full-Text
Keywords: phenylketonuria; phenylalanine; metabolic control; guidelines phenylketonuria; phenylalanine; metabolic control; guidelines
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MDPI and ACS Style

Kanufre, V.; Almeida, M.F.; Barbosa, C.S.; Carmona, C.; Bandeira, A.; Martins, E.; Rocha, S.; Guimas, A.; Ribeiro, R.; MacDonald, A.; Pinto, A.; Rocha, J.C. Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations. Nutrients 2021, 13, 3118.

AMA Style

Kanufre V, Almeida MF, Barbosa CS, Carmona C, Bandeira A, Martins E, Rocha S, Guimas A, Ribeiro R, MacDonald A, Pinto A, Rocha JC. Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations. Nutrients. 2021; 13(9):3118.

Chicago/Turabian Style

Kanufre, Viviane, Manuela F. Almeida, Catarina S. Barbosa, Carla Carmona, Anabela Bandeira, Esmeralda Martins, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Anita MacDonald, Alex Pinto, and Júlio C. Rocha. 2021. "Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations" Nutrients 13, no. 9: 3118.

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