5 documents found, page 1 of 1
Prevalence of the most common pathogenic variants in three genes for inborn err...
Randon,Dévora N.; Sperb-Ludwig,Fernanda; Vianna,Fernanda S. L.; Becker,Ana P. P.; Vargas,Carmen R.; Sitta,Angela; Sant’Ana,Alexia N.; Schwartz,Ida V. D.Abstract Citrullinemia type 1 (CTLNI), long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and mut0 methylmalonic acidemia (mut0 MMA) are inborn errors of metabolism (IEMs) associated with sudden unexpected death in infancy (SUDI). Its most common pathogenic variants are: c.1168G>A (CTLNI, ASS1 gene), c.1528G>C (LCHADD, HADHA gene), c.655A>T and c.1106G>A (mut0 MMA, MUT gene). Considering the absenc...
Screening for organic acidurias and aminoacidopathies in high-risk Brazilian pa...
Wajner,Moacir; Sitta,Angela; Kayser,Aline; Deon,Marion; Groehs,Ana C.; Coelho,Daniella M.; Vargas,Carmen R.Abstract Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell metabolism. Since a considerable number of such disorders are potentially treatable when diagnosed at an early stage of life, diagnosis is crucial for the pa...
Acidúrias orgânicas: diagnóstico em pacientes de alto risco no Brasil
Wajner,Moacir; Barschak,Alethéa G.; Luft,Ana Paula; Pires,Ricardo; Grillo,Eugênio; Lohr,Alfredo; Funayama,Carolina; Sanseverino,Maria TeresaOBJETIVO: o objetivo deste trabalho foi o de verificar a prevalência das acidúrias orgânicas em pacientes brasileiros de alto risco. MÉTODOS: técnicas laboratoriais para a detecção e quantificação de ácidos orgânicos por cromatografia gasosa acoplada à espectrometria de massa foram implantadas em Porto Alegre, Brasil. Foram analisados 1.480 pacientes suspeitos, investigados entre janeiro de 1994 e junho de 2000...
X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian...
Vargas,Carmen R.; Coelho,Daniella de M.; Barschak,Alethéa G.; Souza,Carolina F.M. de; Puga,Ana C.S.; Schwartz,Ida V.D.; Jardim,Laura; Giugliani,RobertoAdrenoleukodystrophy (X-ALD) is an X-linked recessively inherited peroxisomal disorder, phenotypically heterogeneous, characterized by progressive white-matter demyelination of the central nervous system and adrenocortical insufficiency. We investigated 15 male X-ALD patients varying in age from 7 to 39, diagnosed among 108 suspected patients referred for investigation. Plasma levels of very long chain fatty ac...
Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystro...
Vargas,Carmen R.; Barschak,Alethéa G.; Coelho,Daniella M.; Furlanetto,Vivian; Souza,Carolina F.M. de; Karam,Simone M.; Jardim,Laura; Wajner,MoacirX-Linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of the peroxisomal metabolism biochemically characterized by the accumulation of very long chain fatty acids (VLCFA) in tissues and biological fluids. The major accumulated acids are hexacosanoic acid (C26:0) and tetracosanoic acid (C24:0). The disorder is characterized clinically by central and peripheral demyelination and adrenal insufficiency clo...