X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.
Ann Neurol
; 52(2): 227-31, 2002 Aug.
Article
em En
| MEDLINE
| ID: mdl-12210795
ABSTRACT
Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221-1223delTTC) was identified.
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Bases de dados:
MEDLINE
Assunto principal:
Proteínas de Membrana Transportadoras
/
Cromossomo X
/
Creatina
/
Ligação Genética
/
Erros Inatos do Metabolismo
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Itália