Journal Of Inherited Metabolic Disease (journal Of Inherited Metabolic Disease, Vol 14, No 4) (volume 14)

The articles in Issue 4 of __Journal of Inherited Metabolic Disease__, Vol. 14 (1991) contain the main lectures presented at the 28th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 1990, which was dedicated to `The Liver and Inherited Metabolic Disease' with a half-day workshop on `Screening and Economics'. The subjects covered include metabolic functions of the liver, bile acids, alpha-1-antitrypsin deficiency, tyrosinaemia type I, Crigler-Najjar disease type I and Niemann-Pick disease type C, providing updates on a wide range of metabolic disorders and illustrating the importance of the complementary contributions from professionals in different disciplines. Also covered in detail is the exciting potential of liver transplantation as treatment for several inborn errors of metabolism. This state-of-the-art review will be of interest to clinicians and research workers alike. Front Matter....Pages I-406 The Role of the Liver in Metabolic Homeostasis: Implications for Inborn Errors of Metabolism....Pages 407-420 Detoxification Pathways in the Liver....Pages 421-430 Hereditary Variation of Liver Enzymes involved with Detoxification and Neurodegenerative Disease....Pages 431-435 Interrelationships of Liver and Brain with Special Reference to Reye Syndrome....Pages 436-458 Fetal and Neonatal Bile Acid Synthesis and Metabolism — Clinical Implications....Pages 459-477 Inborn Errors of Bile Acid Metabolism....Pages 478-496 α 1 -Antitrypsin Deficiency and Liver Disease: Clinical Presentation, Diagnosis and Treatment....Pages 497-511 α 1 -Antitrypsin Deficiency and Liver Disease....Pages 512-525 Clinical Presentation of Metabolic Liver Disease....Pages 526-530 Investigation of Paediatric Liver Disease....Pages 531-537 The Role of Histochemical Investigations in Metabolic Disorders Affecting the Liver....Pages 538-545 Techniques for Studying Hepatic Metabolism in vivo ....Pages 546-553 Tyrosinaemia Type I — an Update....Pages 554-562 Investigation of the Molecular Basis of the Genetic Deficiency of UDP-Glucuronosyl-transferase in Crigler—Najjar Syndrome....Pages 563-579 Niemann-Pick Disease Type C: An Update....Pages 580-595 Paediatric Liver Transplantation: Review of Current Experience....Pages 596-603 Treatment of Inherited Metabolic Disorders by Liver Transplantation....Pages 604-618 The Place of Fetal Liver Transplantation in the Treatment of Inborn Errors of Metabolism....Pages 619-626 Screening and Economics....Pages 627-632 Economic Evaluation of Cost-Benefit Ratio of Neonatal Screening Procedure for Phenylketonuria and Hypothyroidism....Pages 633-639 Services for Thalassaemia as a Model for Cost-Benefit Analysis of Genetics Services....Pages 640-651 Back Matter....Pages 652-653 Comprises the main lectures presented at an international symposium on the liver and inherited metabolic disease. Topics covered include metabolic functions of the liver, bile acids, alpha-1-antitrypsin deficiency, tyrosinaeimia type I, Crigler-Najjar disease type I and Niemann-Pick disease type C.