LIVER-TRANSPLANTATION IN 2 CASES OF PROPIONIC ACIDEMIA

Orthotopic liver transplantation (OLT) was performed in two patients w ith propionic acidaemia, a 7-year-old boy and a 9-year-old girl, diagn osed with a severe neonatal form with high risk of metabolic decompens ation. In both cases the metabolic liver functions recovered within th e 12 postoperative hours; no clinical symptoms of propionic acid toxic ity, metabolic acidosis, severe hyperammonaemia, hyperglycinaemia or h aematological abnormalities were observed. In both cases insulin-depen dent diabetes mellitus occurred early after OLT (persisting in the boy 's case). Severe post-transplantation complications were observed (acu te rejection and CMV infection in both patients) which did not trigger metabolic decompensation. The boy developed chronic rejection and van ishing bile duct syndrome due to incomplete hepatic arterial thrombosi s. He required permanent in-patient care with chronic hyperammonaemia and neurological sequelae involving the basal ganglia and died 15 mont hs after OLT. The girl left hospital after 2 months and is presently l eading a normal life with almost no dietary protein restriction (40 g protein per day). Urinary urea excretion and daily protein intake incr eased after liver transplantation. Propionyl- and tiglylglycine disapp eared immediately after OLT. Urinary methylcitrate and 3-hydroxypropio nate remained at concentrations corresponding to those before OLT. How ever, the total of all characteristic metabolites of organic acid anal ysis was reduced to 50-60% of the values before OLT in both patients. Propionyl-carnitine was still detected at significant concentrations. Plasma odd-chain fatty acid concentrations decreased continuously afte r OLT only in the girl's case. Tissue of both transplanted livers show ed increased odd-chain fatty acid concentrations 9 and 15 months after OLT, respectively, in both patients. We consider that at present OLT should only be performed in severe forms of propionic acidaemia.