Publication:
Evaluation of patients with phenylalanine metabolism disorder: A single center experience

dc.contributor.authorErdöl, Şahin
dc.contributor.authorBilgin, Hüseyin
dc.contributor.buuauthorERDÖL, ŞAHİN
dc.contributor.buuauthorBİLGİN, HÜSEYİN
dc.contributor.departmentTıp Fakültesi
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.contributor.orcid0000-0002-5946-7356
dc.contributor.researcheridJMQ-9930-2023
dc.contributor.researcheridHSF-7083-2023
dc.date.accessioned2024-05-31T06:53:26Z
dc.date.available2024-05-31T06:53:26Z
dc.date.issued2022-01-27
dc.description.abstractAim The aim is to evaluate the clinical, demographic and laboratory data of the patients we followed up with phenylalanine metabolism disorder. Materials and methods In this study, patients with phenylalanine metabolism disorder who applied to Bursa Uludag University Faculty of Medicine, Department of Pediatrics, Pediatric Metabolism Department between 2011 and 2021 were retrospectively examined. The files of 397 patients who were followed up in our pediatric metabolism outpatient clinic and were found to have phenylalanine metabolism disorder by plasma phenylalanine level and molecular genetic analysis were evaluated. Results According to the highest plasma phenylalanine levels at admission, mild hyperphenylalaninemia phenotype constituted the largest group of 397 patients with 282 cases (71.1%), while the least common phenotype was malignant phenylketonuria (BH4 metabolism disorder) with four patients (1.0%). The number of patients with classical phenylketonuria was 90 (22.6%). 61 (62.8%) of 97 phenylalanine metabolism disorder cases who underwent BH4 loading test had a response. The mean phenylalanine level of the patients was 3.62 +/- 1.31 mg/dL in mild hyperphenylalaninemia, 7.98 +/- 3.99 mg/dL in mild phenylketonuria and 11.71 +/- 4.39 mg/dL in classical phenylketonuria. While 241 (76%) of 317 patients younger than 8 years old were in the well-controlled group, 76 (24%) were in the poorly-controlled group. While 41 (53.9%) of 76 patients older than 8 years of age were in the well-controlled group, 35 (46.1%) were in the poorly-controlled group. Conclusions In our study, the largest patient group consisted of patients with mild hyperphenylalaninemia, and the least common phenotype was mild phenylketonuria.
dc.identifier.doi10.1515/jpem-2021-0737
dc.identifier.eissn2191-0251
dc.identifier.endpage467
dc.identifier.issn0334-018X
dc.identifier.issue4
dc.identifier.startpage463
dc.identifier.urihttps://doi.org/10.1515/jpem-2021-0737
dc.identifier.urihttps://www.degruyter.com/document/doi/10.1515/jpem-2021-0737/html
dc.identifier.urihttps://hdl.handle.net/11452/41603
dc.identifier.volume35
dc.identifier.wos000747415800001
dc.indexed.wosWOS.SCI
dc.language.isoen
dc.publisherWalter De Gruyter Gmbh
dc.relation.journalJournal of Pediatric Endocrinology & Metabolism
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectPhenylketonuria
dc.subjectOrganization
dc.subjectManagement
dc.subjectPku
dc.subjectChildren
dc.subjectHyperphenylalaninemia
dc.subjectSapropterin
dc.subjectScience & technology
dc.subjectLife sciences & biomedicine
dc.subjectEndocrinology & metabolism
dc.subjectPediatrics
dc.titleEvaluation of patients with phenylalanine metabolism disorder: A single center experience
dc.typeArticle
dspace.entity.typePublication
local.contributor.departmentTıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
relation.isAuthorOfPublication20f0e0ab-299b-4991-a5bc-4c6021265d5e
relation.isAuthorOfPublication2b20b93d-cba7-4607-8ff3-2122b9a800be
relation.isAuthorOfPublication.latestForDiscovery20f0e0ab-299b-4991-a5bc-4c6021265d5e

Files

Collections