Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.
PAH
Phenylalanine
Phenylketonuria
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
17
09
2020
revised:
13
10
2020
accepted:
14
10
2020
entrez:
26
10
2020
pubmed:
27
10
2020
medline:
27
10
2020
Statut:
epublish
Résumé
Phenylketonuria (PKU) is an inborn error of metabolism characterized by pathogenic variants of the phenylalanine hydroxylase ( The medical records of 116 - DNA sample was available in 110 patients (102 nonrelated individuals) diagnosed with PKU in Latvia were obtained. Phe concentrations were measured in dried blood spots. Genomic DNA was analyzed for pathogenic variants in the In 97% of patients (99 of 102), pathogenic variants were detected on both alleles. With an occurrence of 69.6%%, the most common pathogenic variant was the severe pathogenic variant p.Arg408Trp. The available data for 83 patients revealed that metabolic control was better in younger age groups and worse in adults. Latvia exhibits a relatively homogeneous pool of disease-causing PKU alleles with a high prevalence of the classical severe form of PKU. Dietary compliance in all patients' groups is lower than expected, especially it is poor in adult age group.
Identifiants
pubmed: 33101986
doi: 10.1016/j.ymgmr.2020.100671
pii: S2214-4269(20)30117-8
pmc: PMC7578541
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100671Informations de copyright
© 2020 The Authors. Published by Elsevier Inc.
Déclaration de conflit d'intérêts
None.
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