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Multicenter study on long-term growth in patients with phenylketonuria

2025-08-04Artigo científico Acesso aberto
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dc.contributor.authorStanescu, S.
dc.contributor.authorBelanger-Quintana, A.
dc.contributor.authorRocha, J. C.
dc.contributor.authorCésar Rocha, Júlio
dc.contributor.authorAlmeida, M. F.
dc.contributor.authorAhring, K.
dc.contributor.authorDokoupil, K.
dc.contributor.authorLammardo, A. M.
dc.contributor.authorvan Dam, E.
dc.contributor.authorMuriel, A.
dc.contributor.authorMacDonald, A.
dc.contributor.institutionNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
dc.contributor.institutionCentro de Investigação em Tecnologias e Serviços de Saúde (CINTESIS)
dc.contributor.pblSpringer Verlag
dc.date.accessioned2025-09-10T21:37:58Z
dc.date.available2025-09-10T21:37:58Z
dc.date.issued2025-08-04
dc.description.abstractINTRODUCTION: Most of the studies on PKU have focused on the neurological development of patients. Studies regarding the physical development usually cover a short period of time, do not include dietary information, and results are contradictory. The aim of this study is to determine whether the patients with PKU have a normal growth, the incidence of obesity and the relationship of these parameters with diet and nutritional intake. MATERIAL AND METHODS: This is a retrospective, multicenter, multinational study including patients with PKU from 8 centers from different countries. Data of growth parameters and dietary regimes were collected from birth until the age of 18 years. Anthropometric tools of the WHO (Anthro version 3.2.2 and Anthro plus) were used to calculate z-score for weight-for-age, height-for-age and body mass index (BMI). RESULTS: Data from 182 patients with classical PKU were included. The median height z-scores for both male and female patients showed a normal growth pattern according to the WHO charts. Significant positive correlation  was observed between height z-score and the Phe (mg/day) and natural protein (g/day) intakes in all ages, especially in children younger than 11 years. The amount of Phe-free amino acid mixture did not affect the height, but lower intakes were negative correlated with the BMI. Also, we detected a positive correlation between the median Phe levels and BMI, meaning that the poorer metabolic control was correlated with higher BMI. CONCLUSIONS: An objective of PKU is that patients have satisfactory final physical development; the height prognosis seems to be associated with Phe and natural protein intake and therefore should be optimized. It is important to collect longitudinal growth data throughout childhood and adolescence in PKU that considers any change in growth in relationship to dietary patterns.en
dc.description.versionpublishersversion
dc.description.versionpublished
dc.format.extent1
dc.format.extent964450
dc.identifier.doi10.1186/s13023-025-03946-3
dc.identifier.issn1750-1172
dc.identifier.otherPURE: 128518048
dc.identifier.otherPURE UUID: 2ee66f13-cbbf-492e-a034-89f0774becf2
dc.identifier.otherScopus: 105013074843
dc.identifier.otherPubMed: 40759975
dc.identifier.urihttp://hdl.handle.net/10362/187775
dc.identifier.urlhttps://www.scopus.com/pages/publications/105013074843
dc.language.isoeng
dc.peerreviewedyes
dc.subjectDiet
dc.subjectGrowth
dc.subjectNatural protein intake
dc.subjectPhenylketonuria
dc.subjectGenetics(clinical)
dc.subjectPharmacology (medical)
dc.subjectSDG 3 - Good Health and Well-being
dc.titleMulticenter study on long-term growth in patients with phenylketonuriaen
dc.typejournal article
degois.publication.firstPage
degois.publication.issue1
degois.publication.lastPage
degois.publication.titleOrphanet Journal of Rare Diseases
degois.publication.volume20
dspace.entity.typePublication
person.familyNameRocha
person.givenNameJúlio César
person.identifier1257878
person.identifier.ciencia-idED11-107D-ABFB
person.identifier.orcid0000-0002-4977-8345
person.identifier.ridK-5399-2013
person.identifier.scopus-author-id35196853000
rcaap.rightsopenAccess
relation.isAuthorOfPublication6f3a4609-8548-4ef1-8605-aef0498baf81
relation.isAuthorOfPublication.latestForDiscovery6f3a4609-8548-4ef1-8605-aef0498baf81

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