S-adenosylmethionine treatment in methionine adenosyltransferase deficiency, a case report.
Mol Genet Metab
; 105(3): 516-8, 2012 Mar.
Article
em En
| MEDLINE
| ID: mdl-22178350
Reported is a female patient with methionine adenosyltransferase I/III (MAT I/III) deficiency, who was found to have pronounced hypermethioninemia on newborn mass spectroscopy screening, and had two compound heterozygous missense mutations in the gene encoding human MAT1A protein. Hypermethioninemia persisted and her mental development was deficient. At 4 years and 8 months, we started with the supplementary treatment of S-adenosylmethionine, the metabolic product of methionine catalyzed by MAT, which was effective in her neurological development.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
S-Adenosilmetionina
/
Erros Inatos do Metabolismo dos Aminoácidos
/
Metionina Adenosiltransferase
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article