Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
Mol Genet Metab
; 109(2): 215-7, 2013 Jun.
Article
em En
| MEDLINE
| ID: mdl-23583224
ABSTRACT
Guanidinoacetate methyltransferase (GAMT) deficiency is a good candidate disorder for newborn screening because early treatment appears to improve outcomes. We report elevation of guanidinoacetate in archived newborn dried blood spots for 3 cases (2 families) of GAMT deficiency compared with an unaffected carrier and controls. We also report a new case of a patient treated from birth with normal developmental outcome at the age of 42 months.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Guanidinoacetato N-Metiltransferase
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Glicina
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Transtornos do Desenvolvimento da Linguagem
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Transtornos dos Movimentos
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Screening_studies
Limite:
Child, preschool
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Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Mol Genet Metab
Assunto da revista:
BIOLOGIA MOLECULAR
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BIOQUIMICA
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METABOLISMO
Ano de publicação:
2013
Tipo de documento:
Article
País de afiliação:
Estados Unidos