37 documents found, page 1 of 4
LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION
Lopes, T.; Coelho, M.; Bordalo, D.; Bandeira, A.; Bandeira, A.; Vilarinho, L.; Fonseca, P.; Carvalho, S.; Martins, C.; Oliveira, J.Objective: Leigh syndrome is a neurodegenerative disorder with an incidence of 1:40,000 live births. It presents wide clinical, biochemical, and genetic heterogeneity, but with homogenous neuropatoradiological alterations. There is no specific treatment, and the prognosis is reserved. This case report aimed familiarize health professionals with the disease. Case Description: A 16-month-hold girl who was followe...
Molecular picture of cobalamin C/D defects before and after newborn screening era
Nogueira, C.; Marcão, A.; Rocha, H.; Sousa, C.; Fonseca, H.; Valongo, C.; Vilarinho, L.Objective: Birth prevalence of Cobalamin (Cbl) C or D defects in Portugal is an estimated 1:85,000, one of the highest worldwide. We compared the genotype/phenotype of patients identified with CblC or CblD before and after the implementation of expanded newborn screening. Methods: Twenty-five Portuguese CblC/D patients, 14 symptomatic and 11 identified through screening, were diagnosed using gas chromatography ...
LPIN1 deficiency: A novel mutation associated with different phenotypes in the ...
Nunes, D.; Nogueira, C.; Lopes, A.; Chaves, P.; Rodrigues, E.; Cardoso, T.; Leão Teles, E.; Vilarinho, L.Rhabdomyolysis (RM) is characterized by acute and often severe skeletal muscle damage resulting in myoglobinuria and, in severe cases, acute renal failure. In adults is typically due to trauma, intoxication or infection, whereas in children is frequently associated with inherited muscle disorders. LPIN1 mutations were identified as a cause of severe recurrent RM, which usually begin in childhood, and infections...
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...
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 cultu...
Retrospective diagnosis of congenital cytomegalovirus infection in a cohort of ...
Araújo-Martins, J.; Correia, I.; Monteiro, L.; Santos, P. B.; Paixão, P.; Campos, O.; Vilarinho, L.; Almeida, S.; Marques, T.Objectives: To determine the prevalence of congenital cytomegalovirus (CMV) infection as a cause of hearing impairment in children.Methods: We conducted a retrospective cohort study based on patient clinical records. Children were selected if they had moderate (or worse) bilateral sensorioneural hearing loss, with no established diagnosis. Data blood storage cards kept in a reference laboratory in Portugal were...
Clinical presentation and outcome in a series of 88 patients with the cblC defect
Fischer, S.; Huemer, M.; Baumgartner, M.; Deodato, F.; Ballhausen, D.; Boneh, A.; Burlina, A.B.; Cerone, R.; Garcia, P.; Gökçay, G.; Grünewald, S.The cblC defect is the most common inborn error of vitamin B12 metabolism. Despite therapeutic measures, the long-term outcome is often unsatisfactory. This retrospective multicentre study evaluates clinical, biochemical and genetic findings in 88 cblC patients. The questionnaire designed for the study evaluates clinical and biochemical features at both initial presentation and during follow up. Also the develo...
Identification of maternal uniparental isodisomy of chromosome 10 in a patient ...
Nogueira, Célia; Marques, J.S.; Nesti, C.; Azevedo, A.; Di Lullo, M.; Meschini, M.C.; Orlacchio, A.; Videira, A.; Santorelli, F.M.; Vilarinho, L.Introduction: Twinkle, the mitochondrial helicase encoded by C10orf2, serves a key function in mtDNA replication and its mutations associated with a broad spectrum of clinical conditions characterized by qualitative or quantitative defects of mtDNA, including infantile-onset spinocerebellar ataxia (IOSCA), progressive external ophthalmoplegia, and the hepatocerebral mtDNA depletion syndrome (MDS). The signs in ...
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...
Novel TTC19 mutation in a family with severe psychiatric manifestations and com...
Nogueira, C.; Barros, J.; Sá, M.J.; Azevedo L, L.; Taipa, R.; Torraco, A.; Meschini, M.C.; Verrigni, D.; Nesti, C.; Rizza, T.; Teixeira, João PauloComplex III of the mitochondrial respiratory chain (CIII) catalyzes transfer of electrons from reduced coenzyme Q to cytochrome c. Low biochemical activity of CIII is not a frequent etiology in disorders of oxidative metabolism and is genetically heterogeneous. Recently, mutations in the human tetratricopeptide 19 gene (TTC19) have been involved in the etiology of CIII deficiency through impaired assembly of th...