Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
J Inherit Metab Dis
; 35(6): 1031-6, 2012 Nov.
Article
em En
| MEDLINE
| ID: mdl-22403017
ABSTRACT
Analysis of α-aminoadipic semialdehyde is an important tool in the diagnosis of antiquitin deficiency (pyridoxine-dependent epilepsy). However continuing use of this test has revealed that elevated urinary excretion of α-aminoadipic semialdehyde is not only found in patients with pyridoxine-dependent epilepsy but is also seen in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency. This should be taken into account when interpreting the laboratory data. Sulphite was shown to inhibit α-aminoadipic semialdehyde dehydrogenase in vitro.
Texto completo:
1
Coleções:
01-internacional
Temas:
Geral
Base de dados:
MEDLINE
Assunto principal:
Coenzimas
/
Oxirredutases atuantes sobre Doadores de Grupo Enxofre
/
Erros Inatos do Metabolismo dos Aminoácidos
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Ácido 2-Aminoadípico
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Erros Inatos do Metabolismo dos Metais
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Metaloproteínas
Limite:
Adolescent
/
Child
/
Humans
/
Newborn
Idioma:
En
Revista:
J Inherit Metab Dis
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Reino Unido