Determination of short and long term results of liver transplanted patients with the diagnosis of inborn errors of metabolism at Başkent University, Ankara Hospital,

Determination of Short and Long Term Results of Liver Transplanted Patients with the Diagnosis of Inborn Errors of Metabolism at Başkent University, Ankara Hospital, 2022, Ankara Inborn errors of metabolism (IEM) are a group of inherited diseases that can cause significant morbidity and mortality in childhood. Liver transplantation (LT) is curative treatment in some of these diseases and relatively curative in some of them. Nowadays, LT at IEM has increased and IEM has become the second most common reason for pediatric LT. Between the years of 2004-2021, 40 liver transplanted pediatric patients with IEM at Başkent University, Ankara Hospital were included in the study. The following data were respectively recorded from the hospital charts: diagnosis, gender, age of diagnosis, age of LT, follow-up period, current age, survival, consanguinity status between parents, indication for LT, donör data, LT method, explant liver pathology, presence and number of acute cellular rejection, pre- and post-transplant development and intelligence tests, academic levels at last visit, body height, post-transplantation complications, clinical, biochemical and radiological findings of the IEM before and after LT, treatment methods and duration of follow-up. Genetic mutation analysis in 8 patients whose definitive diagnosis was not confirmed by genetic analysis was performed from venous blood samples. A total of 42 LT were included in 40 patients with 2 re-transplantation. Glycogen storage diseases (GDH) (n=7), tyrosinemia type 1 (n=10), homozygous familial hypercholesterolemia (FH) (n=4), primary hyperoxaluria (PH) (n=5), urea cycle disorders (n=6), propionik acidemia (PA) (n=2), methylmalonic acidemia (MMA) (n=1), deoxyguanosine kinase (DGUOK) deficiency (n=2), Niemann-Pick Disease type B (n=1), alkaptonuria with unknown neonatal cholestasis (n=1), bile acid synthesis disorder (n=1) were the diagnosis of patients. The mean age at LT was 78,7±9,7 months (5-218), the post-transplant follow-up period was 83,5±10,6 months (0-211), and mean current age for surviving patients was 178,5±19,1 months (20-375). Eleven patients [GSD (n=4), tyrosinemia type 1 (n=4), AD (n=2), PH (n=1)] reached adult age. Eleven patients died. The mean follow-up period of the deceased patients after LT was 35 months (0-189). Survival rates at 1, 5 and 10 year were 79,8 %, 76,9 %, 76,9 % respectively. The consanguinity was seen in 29 (72.5%) of the patients.In IEM, early diagnosis and liver transplantation increase survival rate, moreover improvement in growth development, quality of life with normal diet. Key word: Inborn errors of metabolism, liver transplantation