Pre-symptomatic treatment of creatine biosynthesis defects.
Subcell Biochem
; 46: 167-81, 2007.
Article
em En
| MEDLINE
| ID: mdl-18652077
ABSTRACT
Recent observations in two patients, one with AGAT deficiency (AGAT-D) and one with GAMT deficiency (GAMT-D), both diagnosed already at birth, provide first evidence for important therapeutic effects of pre-symptomatic treatment with creatine (Cr) supplementation in AGAT-D and Cr supplementation plus guanidinoacetate lowering strategies in GAMT-D. Although long-term data are lacking, the results suggest that complete prevention of neurological sequelae in early treated patients could be feasible (Battini et al., 2006; Schulze et al., 2006).
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Base de dados:
MEDLINE
Assunto principal:
Encefalopatias Metabólicas
/
Creatina
/
Guanidinoacetato N-Metiltransferase
/
Amidinotransferases
/
Glicina
Tipo de estudo:
Diagnostic_studies
Idioma:
En
Revista:
Subcell Biochem
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Canadá