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Fumaric aciduria: an overview and the first Brazilian case report
Author(s) -
Allegri Gabriella,
Fernandes Marcia J.,
Scalco Fernanda B.,
Correia Patricia,
Simoni Ruth E.,
Llerena Juan C.,
Oliveira Maria L. Costa
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-010-9134-2
Subject(s) - fumaric acid , ventriculomegaly , medicine , endocrinology , metabolic acidosis , fumarase , hypotonia , microcephaly , fetus , pregnancy , pediatrics , chemistry , biology , biochemistry , genetics , enzyme
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.