A case of Menkes disease caused by novel mutation in the ATP7A gene with infantile hypertrophic pyloric stenosis / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 186-190, 2014.
Artículo
en Inglés
| WPRIM
| ID: wpr-40191
ABSTRACT
Menkes disease is caused by mutations in the ATP7A gene that lead to intracellular copper transport defects and characterized by brownish twisted (kinky) hair accompanied by growth retardation and intellectual disability. Reduced nitric oxide (NO) production contributes to infantile hypertrophic pyloric stenosis (IHPS) because NO plays an important role in smooth muscle relaxation. Here we describe a case of Menkes disease and IHPS in a 72-day-old male patient with severe persistent vomiting and convulsions with a novel ATP7A mutation.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Estenosis Pilórica
/
Relajación
/
Convulsiones
/
Vómitos
/
Óxido Nítrico Sintasa
/
Cobre
/
Estenosis Hipertrófica del Piloro
/
Cabello
/
Síndrome del Pelo Ensortijado
/
Discapacidad Intelectual
Límite:
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Journal of the Korean Child Neurology Society
Año:
2014
Tipo del documento:
Artículo
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