Abstract
Paediatric metabolic disorders with the most clinical manifestations of deranged hepatic metabolism are discussed. The conditions which will be stressed are those for which effective treatment is available and early diagnosis is essential. Accurate diagnosis of other disorders for which no treatment is, as yet, available is also important as a guide to prognosis and for accurate genetic counselling. With the advancement in amniocentesis techniques there is a growing role for gene therapy. For selected metabolic disorders, paediatric liver transplantations have been successful.
Please view the full content in the pdf above.
