Biochemical and clinical findings in the first two cases of glutaric aciduria type I in the Philippines
Acta Medica Philippina
;
: 70-72, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-631853
ABSTRACT
We report the first two diagnosed cases of Glutaric Aciduria Type I (GA I) in the Philippines. The diagnosis was confirmed by urinary organic acid analysis by Gas Chromatography-Mass Spectrometry (GC-MS) which showed the characteristic metabolites for GA I. Review of their clinical features showed macrocephaly, developmental delay, seizures, dystonia and choreoathetotic posturing. Cranial CT scan findings were also compatible with previously reported cases. This paper emphasizes the usefulness of locally available biochemical tools in the diagnosis of inborn errors of metabolism as well as the importance of clinical recognition of these disorders.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Deficiência Múltipla de Acil Coenzima A Desidrogenase
/
Erros Inatos do Metabolismo dos Aminoácidos
/
Doenças Genéticas Inatas
/
Erros Inatos do Metabolismo
/
Doenças e Anormalidades Congênitas, Hereditárias e Neonatais
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Lactente
/
Masculino
Idioma:
Inglês
Revista:
Acta Medica Philippina
Ano de publicação:
2011
Tipo de documento:
Artigo
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