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  1. Article ; Online: Total Protein Intake in Patients with PKU: Adequacy Evaluation According to the European PKU Guidelines from 2017.

    Gomes, Melanie / Almeida, Manuela Ferreira / Barbosa, Catarina Sousa / Gama, Maria Inês / Peres, Maria / Pinto, Élia / MacDonald, Anita / Rocha, Júlio César

    Nutrients

    2023  Volume 15, Issue 23

    Abstract: In PKU, the protein requirements are contentious. In 2018, we evaluated the protein intake in patients with PKU. Ninety-nine early treated patients aged 19.3 ± 8.2 years (54% males) were studied. A total of 24 had hyperphenylalaninemia (HPA), 48 mild and ...

    Abstract In PKU, the protein requirements are contentious. In 2018, we evaluated the protein intake in patients with PKU. Ninety-nine early treated patients aged 19.3 ± 8.2 years (54% males) were studied. A total of 24 had hyperphenylalaninemia (HPA), 48 mild and 27 classical PKU. All had an annual nutritional status evaluation. A total of 83% were on diet therapy only, and 17% were on diet with tetrahydrobiopterin therapy. Anthropometry, metabolic control and nutritional intake [total protein (TP, g/kg), natural protein (NP, g/kg), protein equivalent from protein substitutes (PE, g/kg)] were collected. TP adequacy (TPA) was calculated as a % of WHO (2007) safe levels of protein intake. Results were compared with the European PKU Guidelines (EPG). The median % contribution NP of TP intake was 53% [31-100]. Most patients (78%) had a TP intake above the EPG recommendations. The median TPA was 171% [146-203], with 79% [51-165] from NP and 84% [0-109] from PE. A TPA of 100-140% was observed in 16 (16%) patients. Only n = 6 (6%) patients had a TPA < 100%. These results emphasize the heterogeneity of PKU. More research is needed to understand the necessity of a single protein recommendation for all, as a 'one-size-fits-all' solution might not be appropriate.
    MeSH term(s) Male ; Humans ; Female ; Phenylalanine ; Phenylketonurias ; Nutritional Status ; Diet ; Anthropometry
    Chemical Substances Phenylalanine (47E5O17Y3R)
    Language English
    Publishing date 2023-11-22
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2518386-2
    ISSN 2072-6643 ; 2072-6643
    ISSN (online) 2072-6643
    ISSN 2072-6643
    DOI 10.3390/nu15234883
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations

    Kanufre, Viviane / Almeida, Manuela Ferreira / Barbosa, Catarina Sousa / Carmona, Carla / Bandeira, Anabela / Martins, Esmeralda / Rocha, Sara / Guimas, Arlindo / Ribeiro, Rosa / MacDonald, Anita / Pinto, Alex / Rocha, Júlio César

    Nutrients. 2021 Sept. 06, v. 13, no. 9

    2021  

    Abstract: 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 ... ...

    Abstract 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.
    Keywords blood ; phenylalanine ; phenylketonuria ; therapeutics
    Language English
    Dates of publication 2021-0906
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2518386-2
    ISSN 2072-6643
    ISSN 2072-6643
    DOI 10.3390/nu13093118
    Database NAL-Catalogue (AGRICOLA)

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  3. Article ; Online: Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations.

    Kanufre, Viviane / Almeida, Manuela Ferreira / Barbosa, Catarina Sousa / Carmona, Carla / Bandeira, Anabela / Martins, Esmeralda / Rocha, Sara / Guimas, Arlindo / Ribeiro, Rosa / MacDonald, Anita / Pinto, Alex / Rocha, Júlio César

    Nutrients

    2021  Volume 13, Issue 9

    Abstract: 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 ... ...

    Abstract 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 (
    MeSH term(s) Adolescent ; Adult ; Biomarkers/blood ; Biopterins/analogs & derivatives ; Biopterins/therapeutic use ; Child ; Child, Preschool ; Diet, Protein-Restricted/methods ; Eating ; Female ; Humans ; Infant ; Male ; Phenylalanine/blood ; Phenylketonurias/blood ; Phenylketonurias/therapy ; Portugal ; Practice Guidelines as Topic ; Reference Standards ; Reference Values ; Retrospective Studies ; Treatment Outcome ; Young Adult
    Chemical Substances Biomarkers ; Biopterins ; Phenylalanine (47E5O17Y3R) ; sapropterin (EGX657432I)
    Language English
    Publishing date 2021-09-06
    Publishing country Switzerland
    Document type Journal Article ; Observational Study
    ZDB-ID 2518386-2
    ISSN 2072-6643 ; 2072-6643
    ISSN (online) 2072-6643
    ISSN 2072-6643
    DOI 10.3390/nu13093118
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective.

    Pena, Maria João / Pinto, Alex / de Almeida, Manuela Ferreira / de Sousa Barbosa, Catarina / Ramos, Paula Cristina / Rocha, Sara / Guimas, Arlindo / Ribeiro, Rosa / Martins, Esmeralda / Bandeira, Anabela / Dias, Cláudia Camila / MacDonald, Anita / Borges, Nuno / Rocha, Júlio César

    Orphanet journal of rare diseases

    2021  Volume 16, Issue 1, Page(s) 84

    Abstract: Background: In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional ... ...

    Abstract Background: In phenylketonuria (PKU), modified casein glycomacropeptide supplements (CGMP-AA) are used as an alternative to the traditional phenylalanine (Phe)-free L-amino acid supplements (L-AA). However, studies focusing on the long-term nutritional status of CGMP-AA are lacking. This retrospective study evaluated the long-term impact of CGMP-AA over a mean of 29 months in 11 patients with a mean age at CGMP-AA onset of 28 years (range 15-43) [8 females; 2 hyperphenylalaninaemia (HPA), 3 mild PKU, 3 classical PKU and 3 late-diagnosed]. Outcome measures included metabolic control, anthropometry, body composition and biochemical parameters.
    Results: CGMP-AA, providing 66% of protein equivalent intake from protein substitute, was associated with no significant change in blood Phe with CGMP-AA compared with baseline (562 ± 289 µmol/L vs 628 ± 317 µmol/L; p = 0.065). In contrast, blood tyrosine significantly increased on CGMP-AA (52.0 ± 19.2 μmol/L vs 61.4 ± 23.8 μmol/L; p = 0.027).
    Conclusions: Biochemical nutritional markers remained unchanged which is an encouraging finding in adults with PKU, many of whom are unable to maintain full adherence with nutritionally fortified protein substitutes. Longitudinal, prospective studies with larger sample sizes are necessary to fully understand the metabolic impact of using CGMP-AA in PKU.
    MeSH term(s) Adolescent ; Adult ; Caseins/therapeutic use ; Female ; Humans ; Male ; Peptide Fragments ; Phenylketonurias/drug therapy ; Prospective Studies ; Retrospective Studies ; Young Adult
    Chemical Substances Caseins ; Peptide Fragments ; caseinomacropeptide
    Language English
    Publishing date 2021-02-13
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2225857-7
    ISSN 1750-1172 ; 1750-1172
    ISSN (online) 1750-1172
    ISSN 1750-1172
    DOI 10.1186/s13023-021-01721-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management.

    Pinto, Alex / MacDonald, Anita / Cleto, Esmeralda / Almeida, Manuela Ferreira / Ramos, Paula Cristina / Rocha, Júlio César

    The Turkish journal of pediatrics

    2017  Volume 59, Issue 2, Page(s) 189–192

    Abstract: Pinto A, MacDonald A, Cleto E, Almeida MF, Ramos PC, Rocha JC. A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management. Turk J Pediatr 2017; 59: 189-192. The objective ... ...

    Abstract Pinto A, MacDonald A, Cleto E, Almeida MF, Ramos PC, Rocha JC. A case report of a 4-year-old child with glucose-6-phosphate dehydrogenase deficiency: An evidence based approach to nutritional management. Turk J Pediatr 2017; 59: 189-192. The objective was to describe the nutritional management of a 4-year-old child with glucose-6-phosphate dehydrogenase (G6PD) deficiency. A 4-year-old male child, African descent, born from non-consanguineous parents presented with a clinical history of frequent respiratory infections, usually treated with antibiotics. At 30 months of age, G6PD diagnosis was made after eating one portion (40 - 60 g) of fava beans, resulting in severe hemolytic anemia hospitalization for 5 days. Diagnosis was confirmed by G6PD activity measurement. Nutritional counseling was given to avoid dietary oxidative stressors particularly the exclusion of fava beans and accidental ingestion of other similar beans. Dietary intake of high vitamin C containing foods was discouraged and adequate hydration advised. Nutritional management is crucial in preventing acute stress events in patients with G6PD deficiency.
    MeSH term(s) Animals ; Child, Preschool ; Disease Management ; Feeding Behavior/physiology ; Glucosephosphate Dehydrogenase Deficiency/therapy ; Humans ; Male ; Nutritional Support/methods
    Language English
    Publishing date 2017-05-13
    Publishing country Turkey
    Document type Case Reports ; Journal Article
    ZDB-ID 123487-0
    ISSN 0041-4301
    ISSN 0041-4301
    DOI 10.24953/turkjped.2017.02.012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Over Restriction of Dietary Protein Allowance: The Importance of Ongoing Reassessment of Natural Protein Tolerance in Phenylketonuria.

    Pinto, Alex / Almeida, Manuela Ferreira / MacDonald, Anita / Ramos, Paula Cristina / Rocha, Sara / Guimas, Arlindo / Ribeiro, Rosa / Martins, Esmeralda / Bandeira, Anabela / Jackson, Richard / van Spronsen, Francjan / Payne, Anne / Rocha, Júlio César

    Nutrients

    2019  Volume 11, Issue 5

    Abstract: Phenylalanine (Phe) tolerance is highly variable in phenylketonuria (PKU) and rarely described in patients aged ≥12 years. Patients ≥12 years of age with PKU were systematically challenged with additional natural protein (NP) if blood Phe levels remained ...

    Abstract Phenylalanine (Phe) tolerance is highly variable in phenylketonuria (PKU) and rarely described in patients aged ≥12 years. Patients ≥12 years of age with PKU were systematically challenged with additional natural protein (NP) if blood Phe levels remained below 480 µmol/L (i.e., upper target blood Phe level for patients aged ≥12 years using Portuguese PKU guidelines). In PKU patients, NP tolerance was calculated at baseline and a median of 6 months after systematic challenge with NP whilst patients were maintaining a blood Phe ≤480 μmol/L. Anthropometry was assessed at both times. Routine blood Phe levels were collected. We studied 40 well-controlled PKU patients (10 hyperphenylalaninemia (HPA), 23 mild and 7 classic PKU), on a low-Phe diet with a mean age of 17 years (12-29 years). Median daily NP intake significantly increased between assessments (35 vs. 40 g/day,
    MeSH term(s) Adolescent ; Adult ; Child ; Diet, Protein-Restricted ; Dietary Proteins/administration & dosage ; Female ; Humans ; Longitudinal Studies ; Male ; No-Observed-Adverse-Effect Level ; Phenylalanine/blood ; Phenylketonurias/diet therapy ; Phenylketonurias/metabolism ; Retrospective Studies ; Treatment Outcome ; Young Adult
    Chemical Substances Dietary Proteins ; Phenylalanine (47E5O17Y3R)
    Language English
    Publishing date 2019-04-30
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2518386-2
    ISSN 2072-6643 ; 2072-6643
    ISSN (online) 2072-6643
    ISSN 2072-6643
    DOI 10.3390/nu11050995
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: A series of three case reports in patients with phenylketonuria performing regular exercise: first steps in dietary adjustment.

    Rocha, Júlio César / van Dam, Esther / Ahring, Kirsten / Almeida, Manuela Ferreira / Bélanger-Quintana, Amaya / Dokoupil, Katharina / Gökmen-Özel, Hülya / Robert, Martine / Heidenborg, Carina / Harbage, Emma / MacDonald, Anita

    Journal of pediatric endocrinology & metabolism : JPEM

    2019  Volume 32, Issue 6, Page(s) 635–641

    Abstract: Background Phenylketonuria (PKU), a rare, inherited metabolic condition, is treated with a strict low-phenylalanine (Phe) diet, supplemented with Phe-free protein substitute. The optimal nutritional management of a sporting individual with PKU has not ... ...

    Abstract Background Phenylketonuria (PKU), a rare, inherited metabolic condition, is treated with a strict low-phenylalanine (Phe) diet, supplemented with Phe-free protein substitute. The optimal nutritional management of a sporting individual with PKU has not been described. Therefore, guidelines for the general athlete have to be adapted. Case presentation Three clinical scenarios of sporting patients with PKU are given, illustrating dietary adaptations to usual management and challenges to attain optimal sporting performance. Therefore, the main objectives of sports nutrition in PKU are to (1) maintain a high carbohydrate diet; (2) carefully monitor hydration status; and (3) give attention to the timing of protein substitute intake in the immediate post-exercise recovery phase. Optimal energy intake should be given prior to, during and post exercise training sessions or competition. Fortunately, a usual low-Phe diet is rich in carbohydrate, but attention is required on the types of special low-protein foods chosen. Acute exercise does not seem to influence blood Phe concentrations, but further evidence is needed. Summary Well-treated PKU patients should be able to participate in sports activities, but this is associated with increased nutritional requirements and dietary adjustments. Conclusions It should be the goal of all sporting patients with PKU to maintain good metabolic Phe control and attain maximal athletic performance.
    MeSH term(s) Adolescent ; Adult ; Biomarkers/analysis ; Dietary Supplements ; Exercise Therapy ; Female ; Humans ; Male ; Phenylalanine/blood ; Phenylketonurias/blood ; Phenylketonurias/therapy ; Prognosis ; Young Adult
    Chemical Substances Biomarkers ; Phenylalanine (47E5O17Y3R)
    Language English
    Publishing date 2019-05-18
    Publishing country Germany
    Document type Case Reports
    ZDB-ID 1231070-0
    ISSN 2191-0251 ; 0334-018X
    ISSN (online) 2191-0251
    ISSN 0334-018X
    DOI 10.1515/jpem-2018-0492
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: The European Phenylketonuria Guidelines and the challenges on management practices in Portugal.

    Sousa, Cátia / Almeida, Manuela Ferreira / Sousa Barbosa, Catarina / Martins, Esmeralda / Janeiro, Patrícia / Tavares de Almeida, Isabel / MacDonald, Anita / Rocha, Júlio César

    Journal of pediatric endocrinology & metabolism : JPEM

    2019  Volume 32, Issue 6, Page(s) 623–629

    Abstract: Background Phenylketonuria (PKU) management practices differ between and within countries. In 2007, the Portuguese Society for Metabolic Disorders (SPDM) approved the Portuguese Consensus (PC) for the nutritional treatment of PKU. The recently published ... ...

    Abstract Background Phenylketonuria (PKU) management practices differ between and within countries. In 2007, the Portuguese Society for Metabolic Disorders (SPDM) approved the Portuguese Consensus (PC) for the nutritional treatment of PKU. The recently published European PKU Guidelines (EPG, 2017) systematically reviewed recent evidence and aimed to harmonise treatment protocols in Europe. The objective of this study was to appraise the EPG acceptance and implementation in Portuguese treatment centres. Methods An electronic questionnaire was prepared and the link was sent to 135 SPDM members. It outlined the 10 EPG key recommendations and compared each statement with the consensus recommendations published by SPDM. Responses were recorded and descriptive analyses were performed. Results Twenty-five professionals completed the questionnaire, and over half (56%) were nutritionists/dieticians. At least one questionnaire from each of the 10 national treatment centres was returned. In general, responders accepted most of the recommendations. However, only the recommendation about target phenylalanine (Phe) concentrations between 120 and 360 μmol/L for patients <12 years received 100% consensus with a further seven recommendations gaining over 70% consensus. Almost half of the professionals (48%, n = 12) required further discussion about the EPG-safe upper target blood Phe concentration (600 μmol/L) suggested for patients aged ≥12 years. Almost one third (32%, n = 8) failed to agree with the recommendation in the EPG-proposed classification of Phe hydroxylase (PAH) deficiency. Conclusions The EPG received overall good acceptance, but there was divided opinion about some recommendations which require further discussion before implementation by the Portuguese treatment centres.
    MeSH term(s) Child ; Consensus ; Disease Management ; Europe ; Health Personnel/standards ; Health Planning Guidelines ; Humans ; Phenylketonurias/diagnosis ; Phenylketonurias/therapy ; Portugal ; Practice Guidelines as Topic/standards ; Prognosis ; Surveys and Questionnaires
    Language English
    Publishing date 2019-05-29
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1231070-0
    ISSN 2191-0251 ; 0334-018X
    ISSN (online) 2191-0251
    ISSN 0334-018X
    DOI 10.1515/jpem-2018-0527
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Special low protein foods for phenylketonuria: availability in Europe and an examination of their nutritional profile.

    Pena, Maria João / Almeida, Manuela Ferreira / van Dam, Esther / Ahring, Kirsten / Bélanger-Quintana, Amaya / Dokoupil, Katharina / Gokmen-Ozel, Hulya / Lammardo, Anna Maria / MacDonald, Anita / Robert, Martine / Rocha, Júlio César

    Orphanet journal of rare diseases

    2015  Volume 10, Page(s) 162

    Abstract: Background: Special low protein foods (SLPF) are essential in the nutritional management of patients with phenylketonuria (PKU). The study objectives were to: 1) identify the number of SLPF available for use in eight European countries and Turkey and 2) ...

    Abstract Background: Special low protein foods (SLPF) are essential in the nutritional management of patients with phenylketonuria (PKU). The study objectives were to: 1) identify the number of SLPF available for use in eight European countries and Turkey and 2) analyse the nutritional composition of SLPF available in one of these countries.
    Methods: European Nutritionist Expert Panel on PKU (ENEP) members (Portugal, Spain, Belgium, Italy, Germany, Netherlands, UK, Denmark and Turkey) provided data on SPLF available in each country. The nutritional composition of Portuguese SLPF was compared with regular food products.
    Results: The number of different SLPF available in each country varied widely with a median of 107 [ranging from 73 (Portugal) and 256 (Italy)]. Food analysis of SLPF available from a single country (Portugal) indicated that the mean phenylalanine content was higher in low protein baby cereals (mean 48 mg/100 g) and chocolate/energy bars/jelly (mean 41 mg/100 g). The energy content of different foods from a sub-group of SLPF (cookies) varied widely between 23 and 96 kcal/cookie. Low protein bread had a high fat content [mean 5.8 g/100 g (range 3.7 to 10)] compared with 1.6 g/100 g in regular bread. Seven of the 12 SLPF sub-groups (58 %) did not declare any vitamin content, and only 4 (33 %) identified a limited number of minerals.
    Conclusions: Whilst equal and free access to all SLPF is desirable, the widely variable nutritional composition requires careful nutritional knowledge of all products when prescribed for individual patients with PKU. There is a need for more specific nutritional standards for special low protein foods.
    MeSH term(s) Diet, Protein-Restricted/standards ; Europe ; Food Labeling/standards ; Humans ; Nutritive Value ; Phenylketonurias/diet therapy
    Language English
    Publishing date 2015-12-22
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ISSN 1750-1172
    ISSN (online) 1750-1172
    DOI 10.1186/s13023-015-0378-7
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article: The Use of Prealbumin Concentration as a Biomarker of Nutritional Status in Treated Phenylketonuric Patients

    Rocha, Julio Cesar / Almeida, Manuela Ferreira / Carmona, Carla / Cardoso, Maria Luis / Borges, Nuno / Soares, Isabel / Salcedo, Graca / Lima, Margarida Reis / Azevedo, Isabel / Spronsen, Francjan J. van

    Annals of nutrition & metabolism. 2010, v. 56, no. 3

    2010  

    Abstract: Background/Aims: The neurological sequelae resulting from untreated phenylketonuria are diminished by the success of early introduced and continued dietary treatment. Nowadays, nutritional status is gaining importance in the follow-up of these patients. ... ...

    Abstract Background/Aims: The neurological sequelae resulting from untreated phenylketonuria are diminished by the success of early introduced and continued dietary treatment. Nowadays, nutritional status is gaining importance in the follow-up of these patients. The aim of this work was to study the relevance of prealbumin concentration as biomarker of protein nutritional status of phenylketonuric patients. Methods: We collected data from 69 phenylketonuric patients on food intake, blood prealbumin and blood phenylalanine concentrations. Protein insufficiency was defined as prealbumin z-scores below the 5th percentile of reference population. Additionally, we considered a prealbumin concentration of 20 mg/dl as a threshold level. Results: Nine patients (13%) showed signs of protein insufficiency. When the threshold of 20 mg/dl for prealbumin was used, we found 38 patients (55%) with low prealbumin concentrations. Conclusion: A significant group presented signs of protein insufficiency either using prealbumin z-scores or prealbumin concentration threshold, especially in milder forms of the disease. The results of this seem to confirm the already described threshold level for prealbumin concentration, suggesting that its measurement may be important for nutritional status evaluation, preventing protein insufficiency in milder forms of phenylketonuria.
    Keywords patients ; patient care ; phenylketonuria ; nutritional status ; biomarkers ; nutritional intervention ; prealbumin ; amino acids ; protein deficiencies ; protein concentrates
    Language English
    Size p. 207-211.
    Document type Article
    ZDB-ID 392341-1
    ISSN 1421-9697 ; 0250-6807 ; 1018-9688
    ISSN (online) 1421-9697
    ISSN 0250-6807 ; 1018-9688
    Database NAL-Catalogue (AGRICOLA)

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