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

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 ret...

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Main Authors: Viviane Kanufre, Manuela Ferreira Almeida, Catarina Sousa Barbosa, Carla Carmona, Anabela Bandeira, Esmeralda Martins, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Anita MacDonald, Alex Pinto, Júlio César Rocha
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:Nutrients
Subjects:
Online Access:https://www.mdpi.com/2072-6643/13/9/3118
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spelling doaj-e0a3b33cfdff455ea18d6d08be2ebae42021-09-26T00:51:59ZengMDPI AGNutrients2072-66432021-09-01133118311810.3390/nu13093118Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different RecommendationsViviane Kanufre0Manuela Ferreira Almeida1Catarina Sousa Barbosa2Carla Carmona3Anabela Bandeira4Esmeralda Martins5Sara Rocha6Arlindo Guimas7Rosa Ribeiro8Anita MacDonald9Alex Pinto10Júlio César Rocha11Centro de Genética Médica, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, PortugalCentro de Genética Médica, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, PortugalCentro de Genética Médica, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, PortugalCentro de Genética Médica, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, PortugalCentro de Referência na Área de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto-CHUPorto, 4099-001 Porto, PortugalCentro de Referência na Área de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto-CHUPorto, 4099-001 Porto, PortugalCentro de Referência na Área de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto-CHUPorto, 4099-001 Porto, PortugalCentro de Referência na Área de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto-CHUPorto, 4099-001 Porto, PortugalCentro de Referência na Área de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário do Porto-CHUPorto, 4099-001 Porto, PortugalBirmingham Women’s and Children’s Hospital, Birmingham B4 6NH, UKBirmingham Women’s and Children’s Hospital, Birmingham B4 6NH, UKCentro de Genética Médica, Centro Hospitalar Universitário do Porto (CHUPorto), 4099-028 Porto, PortugalBlood 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 (<i>n =</i> 2), only 34% of blood Phe levels were within target range for all 3 guidelines and 49% with mild PKU (<i>n =</i> 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.https://www.mdpi.com/2072-6643/13/9/3118phenylketonuriaphenylalaninemetabolic controlguidelines
collection DOAJ
language English
format Article
sources DOAJ
author Viviane Kanufre
Manuela Ferreira Almeida
Catarina Sousa Barbosa
Carla Carmona
Anabela Bandeira
Esmeralda Martins
Sara Rocha
Arlindo Guimas
Rosa Ribeiro
Anita MacDonald
Alex Pinto
Júlio César Rocha
spellingShingle Viviane Kanufre
Manuela Ferreira Almeida
Catarina Sousa Barbosa
Carla Carmona
Anabela Bandeira
Esmeralda Martins
Sara Rocha
Arlindo Guimas
Rosa Ribeiro
Anita MacDonald
Alex Pinto
Júlio César Rocha
Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations
Nutrients
phenylketonuria
phenylalanine
metabolic control
guidelines
author_facet Viviane Kanufre
Manuela Ferreira Almeida
Catarina Sousa Barbosa
Carla Carmona
Anabela Bandeira
Esmeralda Martins
Sara Rocha
Arlindo Guimas
Rosa Ribeiro
Anita MacDonald
Alex Pinto
Júlio César Rocha
author_sort Viviane Kanufre
title Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations
title_short Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations
title_full Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations
title_fullStr Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations
title_full_unstemmed Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations
title_sort metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations
publisher MDPI AG
series Nutrients
issn 2072-6643
publishDate 2021-09-01
description 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 (<i>n =</i> 2), only 34% of blood Phe levels were within target range for all 3 guidelines and 49% with mild PKU (<i>n =</i> 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.
topic phenylketonuria
phenylalanine
metabolic control
guidelines
url https://www.mdpi.com/2072-6643/13/9/3118
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