394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC. Inherited disorders of glycoprotein metabolism were reviewed by Dr M. Cantz, Heidelberg, followed by detailed presentations on selected disorders. The meeting was closed by two exciting lectures, given by Dr J. R. Hobbs, London, and Dr F. Ledley, Houston, on the outcome of bone marrow transplantation and on future aspects of gene therapy in patients with inborn errors of metabolism. Each year the 'Mini' Symposium preceding the main topics attracts increasing numbers and in Munich more than half of the 281 active participants also attended on "Maternal Phenylketonuria", organized by Dr the highly interesting workshop D. Brenton, London. This four-hour workshop included international practical experiences in the treatment of maternal phenylketonuria as well as the results of amino acid transport and animal experiments.
Preface.- Mechanisms of Blood Glucose Homeostasis.- The Long-term Outcome of Patients with Glycogen Storage Diseases.- Diagnosis of Glycogen Storage Disease.- Molecular Genetics of Phosphorylase Kinase: cDNA Cloning, Chromosomal Mapping and Isoform Structure.- Phosphorylase b Kinase Deficiency in Man: a Review.- Muscle Glycogenosis.- Inherited Disorders of Carbohydrate Metabolism in Children Studied by 13C-Labelled Precursors, NMR and GC-MS.- Galactose Disorders: an Overview.- Regulation of Galactose Metabolism: Implications for Therapy.- The Mechanisms of Cataract Formation.- Cataract and Metabolic Disease.- Plasma Polyol Levels in Patients with Cataract.- Disorders of Glycoprotein Degradation.- ?- and ?- Mannosidoses.- Schindler Disease: an Inherited Neuroaxonal Dystrophy due to ?-N-Acetylgalactosaminidase Deficiency.- Advances in the Molecular Genetics of Metachromatic Leukodystrophy.- Displacement Bone Marrow Transplantation for Some Inborn Errors.- Clinical Application of Somatic Gene Therapy in Inborn Errors of Metabolism.- Transport of Amino Acids by the Human Placenta: Predicted Effects thereon of Maternal Hyperphenylalaninaemia.- Transport of Amino Acids across the Blood-Brain Barrier: Implications for Treatment of Maternal Phenylketonuria.- The Effects of High Phenylalanine Concentration on Chick Embryonic Development.- A Preliminary Report of the Collaborative Study of Maternal Phenylketonuria in the United States and Canada.- Fetal Damage due to Maternal Phenylketonuria: Effects of Dietary Treatment and Maternal Phenylalanine Concentrations around the Time of Conception.- Maternal Phenylketonuria - the Irish Experience.- Cognitive Development in Offspring of Untreated and Preconceptionally Treated Maternal Phenylketonuria.
Series: Journal of Inherited Metabolic Disease - Review Issue, 13: 4
Number Of Pages: 288
Published: 31st January 1991
Country of Publication: NL
Dimensions (cm): 23.39 x 15.6
Weight (kg): 0.41