RESUMEN
A liver transplantation from an asymptomatic mother, who was a carrier of ornithine transcarbamylase deficiency, to her daughter, who had severe manifestation, was successfully performed. One-year monitoring of plasma amino acid and urinary orotate/orotidine levels revealed no abnormality in the urea cycle in either subject.
Asunto(s)
Heterocigoto , Trasplante de Hígado , Donadores Vivos , Enfermedad por Deficiencia de Ornitina Carbamoiltransferasa/cirugía , Uridina/análogos & derivados , Adulto , Aminoácidos/sangre , Niño , Femenino , Humanos , Ácido Orótico/orina , Resultado del Tratamiento , Uridina/orinaRESUMEN
We report a child with neonatal-onset propionic acidemia treated with living-related liver transplantation. Despite minimal improvement in the levels of circulating propionyl CoA metabolites, hyperammonemia was corrected, and no episode of metabolic decompensation was experienced after the transplantation was performed. Natural protein intake could be increased from 0.5 g/kg per day to 2 g/kg per day. Anemia was corrected, and the growth rate and mental development improved significantly.