Tyrosinemia type I--diagnostic issues and prenatal diagnosis.
Indian J Pediatr
;
2006 Feb; 73(2): 163-5
Artículo
en Inglés
| IMSEAR
| ID: sea-83314
ABSTRACT
A fifteen-month-old boy, born to consanguineously married couple, presented with asymptomatic hepatomegaly. Investigations revealed mildly deranged liver functions, necroinflammatory changes and cirrhosis on liver biopsy, a markedly raised alpha feto protein and tyrosine levels in plasma and a generalized aminoaciduria. His diagnosis of hereditary tyrosinemia was established on findings of raised serum and urine succinylacetone and a deficient activity of fumaryl acetoacetate hydroxylase enzyme. Prenatal diagnosis of hereditary tyrosinemia was performed in a subsequent pregnancy in this family from India.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Diagnóstico Prenatal
/
Femenino
/
Humanos
/
Masculino
/
Embarazo
/
Consanguinidad
/
Tirosinemias
/
Asesoramiento Genético
/
Lactante
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2006
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS