Novel splice site mutations in the gamma glutamyl carboxylase gene in a child with congenital combined deficiency of the vitamin K-dependent coagulation factors (VKCFD).
Pediatr Blood Cancer
; 53(1): 92-5, 2009 Jul.
Article
en En
| MEDLINE
| ID: mdl-19340858
ABSTRACT
Congenital combined deficiency of the vitamin K-dependent coagulation factors is a rare bleeding disorder caused by either a defect in the gamma-glutamyl carboxylase or the vitamin K epoxide reductase enzyme complex. The diagnosis should be considered when vitamin-K dependent factor activities are decreased and liver dysfunction, vitamin K deficiency, and factitious coumarin ingestion have been excluded. We report a case of VKCFD in a child resulting from compound heterozygosity for two novel splice site mutations of the gamma-glutamyl carboxylase gene. Oral vitamin K supplementation resulted in partial resolution of proteins and complete resolution of bleeding.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Vitamina K
/
Deficiencia de Vitamina K
/
Ligasas de Carbono-Carbono
/
Trastornos de las Proteínas de Coagulación
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Estados Unidos