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This work presents the first case of fumaric aciduria described in Brazil, which presented with some interesting clinical and biochemical findings such as colpocephaly, hepatic alterations, and marked metabolic acidosis since birth. Common findings were ventriculomegaly, hypotonia, and microcephaly. Biochemically, besides the high urinary fumaric acid excretion, atypical elevation of plasma citrulline, tyrosine and methionine levels were also observed. In order to show all features and variants of fumaric aciduria, literature data of 40 patients was reviewed and compared with the case reported here. Findings in all these patients demonstrate that this disorder does not yet have its phenotype completely defined; it is important that more patients be described.<\/jats:p>","DOI":"10.1007\/s10545-010-9134-2","type":"journal-article","created":{"date-parts":[[2010,6,14]],"date-time":"2010-06-14T07:49:55Z","timestamp":1276501795000},"page":"411-419","source":"Crossref","is-referenced-by-count":39,"title":["Fumaric aciduria: an overview and the first Brazilian case report"],"prefix":"10.1002","volume":"33","author":[{"given":"Gabriella","family":"Allegri","sequence":"first","affiliation":[{"name":"Laborat\u00f3rio de Erros Inatos do Metabolismo (LABEIM), Departamento de Bioqu\u00edmica, Instituto de Qu\u00edmica Universidade Federal do Rio de Janeiro (UFRJ), Cidade Universit\u00e1ria, Ilha do Fund\u00e3o, Centro de Tecnologia bloco A, 536 C Rio de Janeiro 21941 900 Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia J.","family":"Fernandes","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Erros Inatos do Metabolismo (LABEIM), Departamento de Bioqu\u00edmica, Instituto de Qu\u00edmica Universidade Federal do Rio de Janeiro (UFRJ), Cidade Universit\u00e1ria, Ilha do Fund\u00e3o, Centro de Tecnologia bloco A, 536 C Rio de Janeiro 21941 900 Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda B.","family":"Scalco","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Erros Inatos do Metabolismo (LABEIM), Departamento de Bioqu\u00edmica, Instituto de Qu\u00edmica Universidade Federal do Rio de Janeiro (UFRJ), Cidade Universit\u00e1ria, Ilha do Fund\u00e3o, Centro de Tecnologia bloco A, 536 C Rio de Janeiro 21941 900 Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Correia","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica Instituto Fernandes Figueira, FIOCRUZ Rio de Janeiro Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruth E.","family":"Simoni","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Erros Inatos do Metabolismo (LABEIM), Departamento de Bioqu\u00edmica, Instituto de Qu\u00edmica Universidade Federal do Rio de Janeiro (UFRJ), Cidade Universit\u00e1ria, Ilha do Fund\u00e3o, Centro de Tecnologia bloco A, 536 C Rio de Janeiro 21941 900 Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"Juan C.","family":"Llerena","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica Instituto Fernandes Figueira, FIOCRUZ Rio de Janeiro Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L. 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