title: Fumaric aciduria: an overview and the first Brazilian case report.
abstract: Fumaric aciduria is a rare metabolic disease, with 40 cases reported so far. Fumarase deficiency leads mainly to brain abnormalities, developmental delay, and great accumulation of fumaric acid in urine. 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.
authors.affiliation: Laboratório de Erros Inatos do Metabolismo, Departamento de Bioquímica, Instituto de Química, Universidade Federal do Rio de Janeiro, Cidade Universitária, Ilha do Fundão, Centro de Tecnologia, bloco A, 536 C, 21941 900, Rio de Janeiro, Brasil. gabiallegri@yahoo.com.br
authors.forename: Gabriella
authors.initials: G
authors.lastname: Allegri
authors.forename: Marcia J
authors.initials: MJ
authors.lastname: Fernandes
authors.forename: Fernanda B
authors.initials: FB
authors.lastname: Scalco
authors.forename: Patricia
authors.initials: P
authors.lastname: Correia
authors.forename: Ruth E
authors.initials: RE
authors.lastname: Simoni
authors.forename: Juan C
authors.initials: JC
authors.lastname: Llerena
authors.forename: Maria L Costa
authors.initials: ML
authors.lastname: de Oliveira
mesh_terms: D001938:Brazil; D005192:Family Health; D005260:Female; D005649:Fumarate Hydratase / Q000235:genetics / Q000378:metabolism*; D005650:Fumarates / Q000652:urine*; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000652:urine*
chemical_list: D005650:Fumarates; C032005:fumaric acid; D005649:Fumarate Hydratase