Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I.
J Inherit Metab Dis
; 33 Suppl 3: S413-6, 2010 Dec.
Article
en En
| MEDLINE
| ID: mdl-20852933
ABSTRACT
Acute liver failure may be caused by a variety of disorders including inborn errors of metabolism. In those cases, rapid metabolic investigations and adequate treatment may avoid the need for liver transplantation. We report two patients who presented with acute liver failure and were referred to our center for liver transplantation work-up. Urgent metabolic investigations revealed citrullinemia type I. Treatment for citrullinemia type I avoided the need for liver transplantation. Acute liver failure as a presentation of citrullinemia type I has not previously been reported in young children. Although acute liver failure has occasionally been described in other urea cycle disorders, these disorders may be underestimated as a cause. Timely diagnosis and treatment of these disorders may avoid liver transplantation and improve clinical outcome. Therefore, urea cycle disorders should be included in the differential diagnosis in young children presenting with acute liver failure.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Trasplante de Hígado
/
Fallo Hepático Agudo
/
Procedimientos Innecesarios
/
Citrulinemia
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Infant
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Male
Idioma:
En
Revista:
J Inherit Metab Dis
Año:
2010
Tipo del documento:
Article
País de afiliación:
Países Bajos