Spondylocostal dysostosis associated with methylmalonic aciduria.
Genet Test Mol Biomarkers
; 13(2): 181-3, 2009 Apr.
Article
em En
| MEDLINE
| ID: mdl-19371216
Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and formation defects associated with changes of the ribs. Autosomal dominant and recessive modes of inheritance have been reported. Methylmalonic aciduria (MMA) is an inborn error of propionate or cobalamin metabolism. It is an autosomal recessive disorder and one of the most frequent forms of branched-chain organic acidurias. Here we report on a case of a Brazilian boy with both diseases. As we know, it is the first case in the literature with the occurrence of both SCD and MMA--the first a skeletal disease and the latter an inborn error of metabolism.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Membrana Transportadoras
/
Proteínas Mitocondriais
/
Disostoses
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Genet Test Mol Biomarkers
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Estados Unidos