Cirrhosis is a possible complication and was successfully treated by liver transplantation in a 14-year-old child. Neonatal Hemochromatosis. A few infants received liver transplantation with success. The recent availability of medical antioxidant therapy may limit the need for transplantation in the future.
Gaucher's Disease Type I and Niemann-Pick Disease Type A
Four patients with Gaucher's or Niemann-Pick disease and cirrhosis received a successful liver transplant. Reaccumulation of glucocerebroside or sphyngomyelin was not detected or was minimal in the transplanted liver.
 Liver DisordersAssocited with Severe Extrahepatic Complications. A small number of patients underwent liver transplantation for a genetic disorder of e liver-specific or liver-predominant function that would not result in severe permanent liver damage but rather in severe lesions of extrahepatic organs. Type I Hyperoxaluria This is due to a deficiency of liver peroxisomal alanine:glyoxylate aminotransferase and results in renal lithiasis, nephrocalcinosis, ad kidney failure.Current recommendations are that transplantation should be planned as soon as the glomerular filtration rate (GFR) is between 25 and 65ml/mn per 1,73m2. Liver transplantation alone could be considered if the decline in kidney-liver transplantation should be carried out as soon as GFR decreases below 25ml/mn per 1,73m2. Crigler-Najjar Disease Type I The lack of detectable activity of liver glycuronyltransferase results in a permanently raised serum level of unconjugated bilirubin which is usually maintained at acceptable levels by home phototherapy; serum bilirubin may increase suddenly and unexpectedly with a risk of kernicterus. Liver transplantation is thus recommended before such neurological accidents occur. The treated patients display normal serum bilirubin levels and lead normal lives. Familial Hypercholesterolemia This was treated by combined liver-heart transplantation in a few patients. Liver transplantation alone was successfully carried out in a 4-year-old boy with less than 2% low-density lipoprotein (LDL) receptor activity and serum cholesterol levels close to 700mg/dl and resulted in long-term normalization of serum cholesterol and presumably prevention of atheroselerosis. Homozigous Protein C Deficiency A 20-month-old child with severe thromboses was successfully treated by liver transplantation. Urea Cycle Disorders A few patents with partial ornithine carbamyltransferase, carbamoylphosphate synthetase, or origininosuccinate synthetase deficiency were succesfully treated with liver transplantation. Ammonemia remained normal on a normal diet.
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