BH4-deficient hyperphenylalaninemia in Russia
| Autor: | Irina P Alferova, Lilya P Andreeva, Aleksander V. Polyakov, Anna A. Stepanova, Victoria S. Kakaulina, Ekaterina Zakharova, Ilya V. Kanivets, Galina Baydakova, Sergey I. Kutsev, Irina A Kuznetcova, Lidya V Lyazina, Polina Gundorova, Yulia S. Itkis |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
Molecular biology Gene Sequencing Social Sciences Artificial Gene Amplification and Extension Pathogenesis Pathology and Laboratory Medicine medicine.disease_cause Polymerase Chain Reaction Russia chemistry.chemical_compound Sequencing techniques Medical Conditions Hyperphenylalaninemia Phenylketonurias Medicine and Health Sciences Psychology Phenylketonuria DNA sequencing Pterin Mutation Movement Disorders Multidisciplinary biology Phenylalanine Hydroxylase Neurodegenerative Diseases Genomics Inherited Metabolic Disorders Tetrahydrobiopterin Prognosis Dystonia QDPR Neurology Genetic Diseases Cohort Medicine Phosphorus-Oxygen Lyases Transcriptome Analysis Research Article medicine.drug Next-Generation Sequencing medicine.medical_specialty Phenylalanine hydroxylase Urinary system Science Parenting Behavior Autosomal Recessive Diseases Diagnostic Medicine Genetics medicine Humans Retrospective Studies Clinical Genetics Behavior Biology and life sciences business.industry Computational Biology Genome Analysis medicine.disease Research and analysis methods Molecular biology techniques chemistry Case-Control Studies Metabolic Disorders biology.protein business |
| Zdroj: | PLoS ONE, Vol 16, Iss 4, p e0249608 (2021) PLoS ONE |
| ISSN: | 1932-6203 |
| Popis: | A timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications. Often HPABH4 patients receive the same therapy as phenylalanine hydroxylase (PAH) -deficiency (phenylketonuria) patients—dietary treatment—and do not receive substitutive BH4 therapy until the diagnosis is confirmed by molecular genetic means. In this study, we present a cohort of 30 Russian patients with HPABH4 with detected variants in genes causing different types of HPA. Family diagnostics and biochemical urinary pterin spectrum analyses were carried out. HPABH4A is shown to be the prevalent type, 83.3% of all HPABH4 cases. The mutation spectrum for the PTS gene was defined, the most common variants in Russia were p.Thr106Met—32%, p.Asn72Lys—20%, p.Arg9His—8%, p.Ser32Gly—6%. We also detected 7 novel PTS variants and 3 novel QDPR variants. HPABH4 prevalence was estimated to be 0.5–0.9% of all HPA cases in Russia, which is significantly lower than in European countries on average, China, and Saudi Arabia. The results of this research show the necessity of introducing differential diagnostics for HPABH4 into neonatal screening practice. |
| Databáze: | OpenAIRE |
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