Document Detail


Fumaric aciduria: an overview and the first Brazilian case report.
MedLine Citation:
PMID:  20549362     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Gabriella Allegri; Marcia J Fernandes; Fernanda B Scalco; Patricia Correia; Ruth E Simoni; Juan C Llerena; Maria L Costa de Oliveira
Publication Detail:
Type:  Case Reports; Journal Article; Review     Date:  2010-06-15
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  33     ISSN:  1573-2665     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-07-14     Completed Date:  2010-10-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  411-9     Citation Subset:  IM    
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
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MeSH Terms
Descriptor/Qualifier:
Brazil
Family Health
Female
Fumarate Hydratase / genetics,  metabolism*
Fumarates / urine*
Humans
Infant
Metabolism, Inborn Errors / diagnosis*,  genetics,  urine*
Chemical
Reg. No./Substance:
0/Fumarates; 110-17-8/fumaric acid; EC 4.2.1.2/Fumarate Hydratase

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