ArticleMolecular genetics and metabolism reports2020
Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 7 citations in OpenAlex.
- Nutritional profiling of foods for Phenylketonuria.Scientific reports · 2025Article
- Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant.Scientific reports · 2025Article
- Oral Microbiome Traits of Type 1 Diabetes and Phenylketonuria Patients in Latvia.Microorganisms · 2023Article
- Nutrient Status among Latvian Children with Phenylketonuria.Children (Basel, Switzerland) · 2023Article
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10 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
introductionPhenylketonuria (PKU) is an inborn error of metabolism characterized by pathogenic variants of the phenylalanine hydroxylase ( MATERIALS AND
methodsThe 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
resultsIn 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.
conclusionLatvia 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.
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