| Title: |
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria |
| Authors: |
Whitehall, Kaleigh Bulloch; Rose, Sarah; Clague, Gillian E.; Ahring, Kirsten K.; Bilder, Deborah A.; Harding, Cary O.; Hermida, Álvaro; Inwood, Anita; Longo, Nicola; Maillot, François; Muntau, Ania C.; Pessoa, André L. S.; Rocha, Júlio C.; Rohr, Fran; Sivri, Serap; Said, Jack; Oshinbolu, Sheun; Sibbring, Gillian C. |
| Source: |
http://lobid.org/resources/99370675069506441#!, 19(1):293. |
| Publication Year: |
2024 |
| Collection: |
Publisso (ZB MED-Publikationsportal Lebenswissenschaften) |
| Subject Terms: |
Phenylketonuria; Adult [MeSH]; Humans [MeSH]; Systematic review; Phenylalanine hydroxylase; Nutritional status; Diet; Phenylalanine/blood [MeSH]; Phenylketonurias/epidemiology [MeSH]; Adherence; Phenylalanine; Comorbidity [MeSH]; Disease burden; Review; Comorbidity; Phenylketonurias/diet therapy [MeSH] |
| Description: |
AbstractBackgroundPhenylketonuria (PKU) is an inborn error of phenylalanine (Phe) metabolism that, if untreated, causes Phe accumulation in the brain leading to neurophysiologic alterations and poor outcomes. Lifelong management centers on dietary Phe restriction, yet long-term complete metabolic control is unachievable for many adults. High blood Phe levels or chronic Phe and intact protein restriction in the diet may lead to somatic comorbidities. A systematic literature review was conducted to evaluate somatic comorbidities experienced by adults with PKU.MethodsClinical and observational studies reporting somatic comorbidities experienced by individuals with PKU aged ≥ 16 years (or classified as adults) evaluating a Phe-restricted diet with or without pharmacologic therapy versus no therapeutic intervention (including healthy controls), or pharmacologic therapy versus a Phe-restricted diet alone, were identified. PubMed® was searched (February 1, 2022 and updated November 1, 2023), using a pre-defined search strategy, followed by two-stage screening and data extraction. Included studies were grouped by PKU population comparison.Results1185 records were screened; 51 studies across 12,602 individuals were extracted. Bone-related abnormalities were the most reported outcome (n = 21); several outcome measures were used. Original study groupings included: Phe-restricted diet versus healthy controls or reference values (n = 40); treatment-adherent versus those non-adherent (n = 12). Additional groups added as part of a protocol amendment included: different Phe-restricted diets ... |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
https://repository.publisso.de/resource/frl:6508302; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11318169/ |
| DOI: |
10.1186/s13023-024-03203-z |
| Availability: |
https://repository.publisso.de/resource/frl:6508302; https://doi.org/10.1186/s13023-024-03203-z; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11318169/ |
| Rights: |
https://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.5961C1DE |
| Database: |
BASE |