Isolated sulfite oxidase deficiency in the newborn: lactic acidaemia and leukoencephalopathy.
Neuropediatrics
; 38(1): 38-41, 2007 Feb.
Article
em En
| MEDLINE
| ID: mdl-17607604
ABSTRACT
We report a newborn with progressive leukoencephalopathy and lactic acidaemia, diagnosed with isolated sulfite oxidase deficiency. We show that low plasma total homocysteine (PTHcy) is a valuable early indicator of sulfite oxidase dysfunction, providing a crucial first-line screen, whereas plasma cystine is not always informative in the first few days of life.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acidose Láctica
/
Encefalopatias
/
Ácido Láctico
/
Sulfito Oxidase
Tipo de estudo:
Etiology_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Neuropediatrics
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Canadá