19 documents found, page 1 of 2

Phenylketonuria in Portugal: Genotype–Phenotype Correlations Using Molecular, B...

Background: 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 pre...

Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, B...

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 clinica...

The cdh1 c.1901c>t variant: A founder variant in the portuguese population w...

Hereditary diffuse gastric cancer (HDGC) caused by CDH1 variants predisposes to early-onset diffuse gastric (DGC) and lobular breast cancer (LBC). In Northern Portugal, the unusually high number of HDGC cases in unrelated families carrying the c.1901C>T variant (formerly known as p.A634V) suggested this as a CDH1-founder variant. We aimed to demonstrate that c.1901C>T is a bona fide truncating variant inducing ...

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, b...

Background: 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 pre...

Molecular characterization of a novel splicing mutation underlying mucopolysacc...

Here, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolysaccharidosis, highlighting the different tools used to perform its molecular characterization. In order to decrease the turnaround time for the final report and contribute to reduce the “diagnostic odyssey”, which frequently afflicts affected families, the proband’s sample was simultaneously screened for mutation...

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as he...

Thrombotic 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, w...

Atypical Adult-Onset Methylmalonic Acidemia and Homocystinuria Presenting as He...

Thrombotic 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, w...

Clinical, biochemical, molecular, and histological features of 65 Portuguese pa...

INTRODUCTION: Mitochondrial disorders display remarkable genetic and phenotypic heterogeneity. METHODS: We performed a retrospective analysis of the clinical, histological, biochemical, and genetic features of 65 patients with molecular diagnoses of mitochondrial disorders. RESULTS: The most common genetic diagnosis was a single large-scale mitochondrial DNA (mtDNA) deletion (41.5%), and the most frequent clini...

Reply

Tirosinemia Tipo 1: O Passado e o Presente Numa Unidade de Doenças Metabólicas

Introdução: A ti rosinemia ti po I é uma doença hereditária do metabolismo por défi ce de fumarilacetoacetase, com uma pre- valência ao nascimento de 1:100000 e potencialmente fatal. O plano alimentar individualizado, o transplante hepato-renal e a niti sinona são algumas das estratégias terapêuti cas. Métodos: Estudo retrospeti vo, observacional e descriti vo de oito doentes acompanhados numa unidade de doenças...