Browsing by Author "Vilarinho, L"
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- Atypical Adult-Onset Methylmalonic Acidemia and Homocystinuria Presenting as Hemolytic Uremic SyndromePublication . Navarro, D; Azevedo, A; Sequeira, S; Ferreira, AC; Carvalho, F; Fidalgo, T; Vilarinho, L; Santos, MC; Calado, J; Nolasco, FThrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement.
- Clinical and Molecular Findings in Four New Patients Harbouring the mtDNA 8993T C MutationPublication . Vilarinho, L; Carrozzo, R; Barbot, C; Calado, E; Tessa, A; Dionisi-Vici, C; Guimarães, A; Santorelli, FM
- Défice de Ciclohidrolase (Distonia Dopa Sensìvel) Autossómica Dominante.Publication . Manita, M; Moreira, A; Calado, E; Vilarinho, L
- Phenylketonuria in Portugal: Genotype–Phenotype Correlations Using Molecular, Biochemical, and Haplotypic AnalysesPublication . Ferreira, F; Azevedo, L; Neiva, R; Sousa, C; Fonseca, H; Marcão, A; Rocha, H; Carmona, C; Ramos, S; Bandeira, A; Martins, E; Campos, T; Rodrigues, E; Garcia, P; Diogo, L; Ferreira, AC; Sequeira, S; Silva, F; Rodrigues, L; Gaspar, A; Janeiro, P; Amorim, A; Vilarinho, LBackground: The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease. Methods: In this report, the biochemical and genetic findings performed in 223 patients diagnosed through the Portuguese Neonatal Screening Program (PNSP) are presented. Results: Overall, the results show that a high overlap exists between different types of variants and phenylalanine levels. Molecular analyses reveal a wide mutational spectrum in our population with a total of 56 previously reported variants, most of them found in compound heterozygosity (74% of the patients). Intragenic polymorphic markers were used to assess the haplotypic structure of mutated chromosomes for the most frequent variants found in homozygosity in our population (p.Ile65Thr, p.Arg158Gln, p.Leu249Phe, p.Arg261Gln, p.Val388Met, and c.1066-11G>A). Conclusion: Our data reveal high heterogeneity at the biochemical and molecular levels and are expected to provide a better understanding of the molecular basis of this disease and to provide clues to elucidate genotype-phenotype correlations.
- Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic AnalysesPublication . Ferreira, F; Azevedo, L; Neiva, R; Sousa, C; Fonseca, H; Marcão, A; Rocha, H; Carmona, C; Ramos, S; Bandeira, A; Martins, E; Campos, T; Rodrigues, E; Garcia, P; Diogo, L; Ferreira, AC; Sequeira, S; Silva, F; Rodrigues, L; Gaspar, A; Janeiro, P; Amorim, A; Vilarinho, LThe impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease.