Early orthotopic liver transplantation in urea cycle defects: follow up of a developmental outcome study

Abstract

Patients with neonatal urea cycle defects (UCDs) typically have high mortality and poor neurological outcome unless they receive liver transplantation. Neurologic outcome may be better with liver transplantation before age one year. We report on a follow up on an initial prospective study performed to assess developmental outcome after early liver transplant using the Griffiths Scales. Developmental testing up to 7years after transplantation showed average developmental quotients (DQs) of 69 for four children who underwent transplantation before one year of age (latest DQs were 47, 63, 95 and 96), and 80 for a patient who underwent transplantation at 3years of age (latest DQ was 88). We conclude that a combination of early liver transplantation, aggressive metabolic management and early childhood intervention improve the neurologic outcome of children with UCDs.

Figure 1

A) Patient characteristics. *Hyperammonemia duration is considered as the time above 300 ìM/L [17]. PND: prenatal diagnosis; NB: diagnosis in newborn period. B) Average developmental quotient according to age for each patient. C) Average score across the years for each sub-scale, per patient. Practical reasoning is assessed starting at 4 years of age. Error bars represent standard error of the mean.