Encontrados 17 documentos, a visualizar página 1 de 2
Acidúria 3-hidroxi-3-metilglutárica em Criança com Síndrome de Down
Ferreira, G.; Freitas, S.; Pereira, S. A.; Martins, I.; Tavares, E.; Vilarinho, L.Os autores apresentam um caso clínico de acidúria 3-hidroxi-3-metilglutárica (3HMG) numa criança do sexo feminino, de 2 anos de idade, com síndrome de Down. Apresentava hipoglicemia não cetótica, acidose metabólica, encefalopatia e um perfil anormal de ácidos orgânicos urinários, característico de acidúria 3HMG.A demonstração da deficiência da enzima 3-hidroxi-3-metilglutaril-CoA liase (HMG-CoA liase) em cultur...
Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia
Santos-Silva, E.; Cardoso, M.; Vilarinho, L.; Medina, M.; Barbot, C.; Martins, E.Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. The onset of the disease is usually in childhood, and clinical manifestations include progressive spastic paraparesis and mental retardation. Liver involvement is less frequent and usually not as severe as observed in other UCDs. For this rea...
Liver transplantation prevents progressive neurological impairment in argininemia
Silva, E.S.; Cardoso, M.L.; Vilarinho, L.; Medina, M.; Barbot, C.; Martins, E.Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. The onset of the disease is usually in childhood, and clinical manifestations include progressive spastic paraparesis and mental retardation. Liver involvement is less frequent and usually not as severe as observed in other UCDs. For this rea...
Novel mutation in the mitochondrial transfer RNACys gene in a child
Almeida, L.S.; Martins, E.; Santorelli, F.M.; Vilarinho, L.Mitochondrial DNA (mtDNA) disorders are an important group of genetic diseases presenting with a multifacet array of clinical manifestations. Highly energy-dependent tissues such as central nervous system and skeletal and cardiac muscles are commonly involved either as multisystem or as isolated organ disease. Characteristic symptoms include epilepsy, myopathy, deafness and ophthalmoplegia, all associated with ...
Nuclear-Mitochondrial Intergenomic Communication Disorders
Almeida, L.S.; Nogueira, C.; Vilarinho, L.The focus of this chapter is to review the clinical and molecular etiologies of nuclear defects involved in mtDNA stability and in mitochondrial protein synthesis. The overview done here will hopefully provide insights towards best diagnostic strategies of mitochondrial cross–talk disorders, being useful for clinicians when facing similar cases. Additionally we will present a diagnostic algorithm for these dise...
"Double trouble” or digenic disorder in Complex I deficiency
Almeida, L.S.; Ferreira, M.; Nogueira, C.; Furtado, F.; Evangelista, T.; Santorelli, F.M.; Vilarinho, L.Complex I (CI) deficiency is a defect of OXPHOS caused by mutations in the mitochondrial or nuclear genomes. To date disease-causing mutations have been reported in all mitochondrial-encoded subunits and 22 nuclear genes. In about 50% of the patients no mutations are found, suggesting that undiscovered factors are an important cause of disease. In this study we report a consanguineous family from Southern Portu...
Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of ...
Martins, E.; Marcão, A.; Bandeira, A.; Fonseca, H.; Nogueira, C.; Vilarinho, L.Methionine adenosyltransferase deficienc(MAT I/III deficiency) is an inborn error of metabolism resulting in isolated hypermethioninemia, and usually inherited as an autosomal recessive trait, although a dominant form has been reported in several families. During the last 6 years, approximately 520,000 newborns were screened in the Portuguese Newborn Screening Laboratory by MS/MS, and 21 cases of persistent hyp...
Characterization of novel SLC6A8 variants with the use of splice-site analysis ...
Betsalel, O.T.; Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Schwartz, C.E.; Valayannopoulos, V.; Abdul-Rahman, O.; Poplawski, N.; Vilarinho, L.The X-linked creatine transporter defect is caused by mutations in the SLC6A8 gene. Until now, 66 synonymous and intronic variants in SLC6A8 were detected in our laboratory. To gain more insight in the effect of the detected variants, we applied five free web-based splice-site analysis tools to 25 published variants that were stratified as (non-)disease causing. All were correctly predicted to have no effect (n...
Molecular investigation of pediatric portuguese patients with sensorineural hea...
Nogueira, C.; Coutinho, M.; Pereira, C.; Tessa, A.; Santorelli, F.M.; Vilarinho, L.The understanding of the molecular genetics in sensorineural hearing loss (SNHL) has advanced rapidly during the last decade, but the molecular etiology of hearing impairment in the Portuguese population has not been investigated thoroughly. To provide appropriate genetic testing and counseling to families, we analyzed the whole mitochondrial genome in 95 unrelated children with SNHL (53 nonsyndromic and 42 syn...
Benefícios do Rastreio Neonatal nas Doenças da B-oxidação Mitocondrial dos Ácid...
Martins, E.; Bandeira, A.; Rocha, H.; Marcão, A.; Vilarinho, L.RESUMO Objectivos: Avaliar o contributo do diagnóstico precoce na redução da pesada morbilidade e mortalidade que se associa aos defeitos da B-oxidação mitocondrial dos ácidos gordos. Método: Avaliação clínica e bioquímica retrospectiva dos doentes com defeitos da B-oxidação mitocondrial dos ácidos gordos (défice em desidrogenases dos ácidos gordos de cadeia média - MCAD, défice em desidrogenases dos ácidos go...
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