| 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 |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| 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 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of...
Next Document: Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study.