13 documents found, page 1 of 2
Nutritional assessment of patients with mucopolysaccharidosis: a cross-sectiona...
Faria, Ana; Garcia, P.; Rodrigues, E.; Macário, M.C.; Martins, E.; Janeiro, P.; Diogo, L.
Galactose Epimerase Deficiency: Expanding the Phenotype
Dias Costa, F.; Ferdinandusse, S.; Pinto, C.; Dias, A.; Keldermans, L.; Quelhas, D.; Matthijs, G.; Mooijer, P.; Diogo, L.; Jaeken, J.; Garcia, P.Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency.Patient 1: The first child was born with a dysmorphic syndrome. Failure to thrive was noticed during the first year. Episodes of heart failure due to dilated cardi...
A Novel SUCLA2 Mutation in a Portuguese Child Associated With "Mild" Methylmalo...
Nogueira, Célia; Meschini, M.C.; Nesti, C.; Garcia, P.; Diogo, L.; Valongo, C.; Costa, R.; Videira, A.; Vilarinho, L.; Santorelli, F.M.Succinyl-coenzyme A synthase is a mitochondrial matrix enzyme that catalyzes the reversible synthesis of succinate and adenosine triphosphate (ATP) from succinyl-coenzyme A and adenosine diphosphate (ADP) in the tricarboxylic acid cycle. This enzyme is made up of α and β subunits encoded by SUCLG1 and SUCLA2, respectively. We present a child with severe muscular hypotonia, dystonia, failure to thrive, sensorine...
Avaliação do Estado Redox Plasmático na Criança
Diogo, L.; Drago, H.; Fernandes, A.; Carvalho, G.; Canha, J.; Mota, H. C.; Proença, T.; Oliveira, C.A avaliação do estado redox plasmático, que consiste na determinação simultânea das concentrações plasmáticas de lactato, piruvato, acetoacetato e P-hidroxibutirato, é útil no rastreio das doenças hereditárias do metabolismo por défice energético. O seu doseamento exige rigorosas condições de colheita e processamento das amostras. Fez-se o estudo de 70 crianças sem doença metabólica com idades compreendidas ent...
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional ...
Couce, M.; Sánchez-Pintos, P.; Diogo, L.; Leão-Teles, E.; Martins, E.; Santos, H.; Amor Bueno, M.; Delgado-Pecellín, C.; Castiñeiras, D.; Cocho, J.Background Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients. Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between geno...
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
van de Kamp, J.M.; Betsalel, O.T.; Mercimek-Mahmutoglu, S.; Abulhoul, L.; Grünewald, S.; Anselm, I.; Azzouz, H.; Bratkovic, D.; de Brouwer, A.BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS: We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporte...
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional ...
Couce, M.L.; Sánchez-Pintos, P.; Diogo, L.; Leão-Teles, E.; Martins, E.; Santos, H.; Bueno, M.A.; Delgado-Pecellín, C.; Castiñeiras, D.E.; Cocho, J.A.BACKGROUND: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common inherited defect in the mitochondrial fatty acid oxidation pathway, resulting in significant morbidity and mortality in undiagnosed patients.Newborn screening (NBS) has considerably improved MCADD outcome, but the risk of complication remains in some patients. The aim of this study was to evaluate the relationship between geno...
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Po...
Ventura, F.V.; Leandro, P.; Luz, A.; Rivera, I.A.; Silva, M.F.; Ramos, R.; Rocha, H.; Lopes, A.; Fonseca, H.; Gaspar, A.; Diogo, L.; Martins, E.Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest genetic defect of mitochondrial fatty acid β-oxidation. About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). Herein, we present the first report on the molecular and biochemical spectrum of Portuguese MCADD population. From the 109 patients studied, 83 were diagnosed after inclu...
Potential interference of valproic acid with the biotin-dependent carboxylase o...
Luis, P.; de Almeida, I. Tavares; Silva, M. F. B.; Ruiter, J. P.; Ijlst, L.; Duran, M.; Wanders, R. J. A.; Diogo, L.; Garcia, P.
Interference of valproic acid on the branched chain amino acid oxidative metabo...
Luis, P. B. M.; Ruiter, J. P. N.; Ijlst, L.; Ofman, R.; Diogo, L.; Garcia, P.; Duran, M.; Vockley, J.; Travares, de Almeida,; Wanders, R. J. A.