*Purpose: Metabolic defects in children are rare throughout the world, however if diagnosed too late they can cause severe neurological irreversible deterioration, eventually being fatal. Some of these defects can even cause malignant hepatocyte transformation. Although the overall liver function is normal the only way to supply the body with the essential metabolic enzymes is by either hepatocyte or liver transplantation. In the Middle East metabolic defects amongst children have a higher incidence due to increased consanguinity of parents. Since hepatocyte transplantation is not available, liver transplantation is currently the only cure. Due to the very low rate of deceased organ donation and the young age of the recipients, living liver donation is the main source of organs.

*Methods: From 2010 until 2021 we transplanted 84 children with metabolic diseases. Age at time of transplantation ranged from 6 months to 11 years of age. Underlying diagnosis were Urea cycle disorder (UCD) in 31 cases of which the missing enzyme was arginosuccinic acid synthetase (citrullinemia) (n=8), arginosuccinase acid lyase (arginosuccinic aciduria, ASA) (n=22), carbamoyl phosphate synthetase (CPS) in one case. Glycogen storage disease (GSD) in 19 cases, Type IA (n=14), Type IB (n=1) and Type 4 (n=4), propionic acidemia in 13 cases, maple syrup urine disease (n=13) and tyrosinemia( n=9). 6 children had developed hepatocellular carcinoma at the time of transplantation, 5 with tyrosinemia, one with UCD-ASA. All donors were living donors except for one deceased donor.

*Results: After confirmation of diagnosis and indication for transplantation, we evaluated potential living donors within a time range of up to 2 months, performing liver transplantation as early as possible to prevent further metabolic crisis and neurological deterioration. There were no major postoperative surgical complications. In infants with large for size situation the abdomen was closed in multiple steps, inserting a patch. Neurological status stabilised after transplantation and improved over time. At the time of follow up graft and recipient survival is 100%.

*Conclusions: In metabolic diseases with the risk of neurological deterioration and malignant hepatocyte transformation, liver or hepatocyte transplantation should be performed as early as possible. Hepatocyte transplantation however is limited to a few centers worldwide. This large single center experience on liver transplantation for metabolic diseases, demonstrates the demand and should encourage research on alternative treatment options such as hepatocyte transplantation and gene therapy.

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