Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia: Proceedings of the 23rd Annual Symposium of the SSIEM, Liverpool, September 1985

Front Matter....Pages i-xii
Introduction to Recombinant DNA....Pages 3-16
Human Biochemical Genetics of Enzyme Proteins in the New Age of Molecular Genetics....Pages 17-31
Direct DNA Analysis in Family Studies....Pages 32-37
Applications and Limitations of Direct DNA Analysis in Genetic Prediction....Pages 38-48
DNA Analysis for Ornithine Transcarbamylase Deficiency....Pages 49-57
Molecular Genetics of PKU....Pages 58-68
Human DNA Repair Defects....Pages 69-84
Molecular Basis of α 1 -Antitrypsin Deficiency and its Potential Therapy by Gene Transfer....Pages 85-91
Direct Alteration of a Gene in the Human Genome....Pages 92-97
Diabetes Mellitus, Atherosclerosis, and the 5’ Flanking Polymorphism of the Human Insulin Gene....Pages 98-110
Introduction....Pages 111-114
Clinical Aspects of Congenital Adrenal Hyperplasia: Early Diagnosis and Prognosis....Pages 115-123
Biochemical Aspects of Congenital Adrenal Hyperplasia....Pages 124-134
Review of CAH Screening Programmes and the Scottish Experience....Pages 135-141
Neonatal Screening Programme for Congenital Adrenal Hyperplasia in a Homogenous Caucasian Population....Pages 142-146
Neonatal Screening for Congenital Adrenal Hyperplasia: a Pilot Study in France....Pages 147-151
Congenital Adrenal Hyperplasia in Birmingham: a Retrospective Analysis (1958–1985)....Pages 152-155
Prevalence of Adrenal 21-Hydroxylase Deficiency in Neonates Born in the West Midlands: a Retrospective Study....Pages 155-156
Introduction and Explanation....Pages 157-158
Maternal Phenylketonuria....Pages 159-168
Dietary Problems of Phenylketonuria: Effect on CNS Transmitters and their Possible Role in Behaviour and Neuropsychological Function....Pages 169-177
Diagnosis in Relationship to Treatment of Hyperphenylalaninaemia....Pages 178-182
Problems Related to Diet Management of Maternal Phenylketonuria....Pages 183-201
Preface to Short Communications....Pages 203-205
Molecular Biology of Phenylalanine Hydroxylase....Pages 206-208
Hepatic Phenylalanine Hydroxylase and Dietary Tolerance in Hyperphenylalaninaemic Patients....Pages 209-211
Phenylalanine Metabolites in Treated Phenylketonuric Children....Pages 212-214
Magnesium-Deficient Rickets in a Phenylketonuric Patient on Dietary Treatment....Pages 215-217
Termination of Strict Diet in Phenylketonuria: Neurophysiological, Psychological and Biochemical Studies....Pages 218-222
Effects of Stopping Phenylalanine-Restricted Diet on Intellectual Progress of Children with Phenylketonuria....Pages 223-224
Maternal Hyperphenylalaninaemia: Dietary Treatment during Pregnancy....Pages 225-226
Maternal Hyperphenylalaninaemia in Israel....Pages 227-230
Maternal Phenylketonuria with Increased Tyrosine Supplements....Pages 231-233
Screening for Phenylketonuria in Yugoslavia (SR Croatia) 1979–1984....Pages 234-236
Incidence of Phenylketonuria and Hyperphenylalaninaemia in a Sample of the Turkish Newborn Population....Pages 237-239
Atypical Phenylketonuria with Mild Mental Retardation Caused by Tetrahydrobiopterin Deficiency in a Chinese Family....Pages 240-243
Dihydropteridine Reductase Deficiency: Clinical, Biochemical and Therapeutic Aspects....Pages 244-246
Partial Dihydropteridine Reductase Deficiency and Mental Retardation....Pages 247-249
Urine Amino Acid Analysis by HPLC in the Investigation of Inborn Errors of Metabolism....Pages 250-253
Plasma Amino Acid Patterns in Critically Ill Children....Pages 254-256
Treatment of Hereditary Tyrosinaemia (Fumarylacetoacetase Deficiency) by Enzyme Substitution....Pages 257-261
Presentation of the Data of the Italian Registry for Oculocutaneous Tyrosinaemia....Pages 262-264
A New Case of Hyperlysinaemia with Saccharopinuria....Pages 265-267
Failure of Early Diazepam Treatment in a Neonate with Non-ketotic Hyperglycinaemia....Pages 268-271
Gyrate Atrophy of the Choroid and Retina: 3 Cases in One Italian Family....Pages 272-274
Methylenetetrahydrofolate Reductase and Methyltetrahydrofolate Methyltransferase in Human Fetal Tissues and Chorionic Villi....Pages 275-276
Kinetic Studies on the Glucose-6-phosphate Transport System in Rat Hepatic Microsomal Membrane....Pages 277-279
Long-term Cornstarch Therapy in Glycogen Storage Disease Types I, Ib and III....Pages 280-283
Galactose-1-Phosphate-Uridyl Transferase Activity in Chorionic Villi: A First Trimester Prenatal Diagnosis of Galactosaemia....Pages 284-286
Molecular Heterogeneity of McArdle Disease....Pages 287-290
Decreased Affinity of Phosphorylase a for Glucose-1-phosphate in Polymorphonuclear Leukocytes of a Patient with Glycogenosis Type VI....Pages 291-292
The Diagnosis and Treatment of a Patient with Medium-chain Acyl-CoA Dehydrogenase Deficiency: Overnight Fasting Does Not Result in the Expected Urinary Metabolite Profile....Pages 293-296
A New Case of C 6 –C 14 Dicarboxylic Aciduria with Favourable Evolution....Pages 297-299
Pyruvate Carboxylase Responsive to Ketosis in a Multiple Carboxylase Deficiency Patient....Pages 300-302
Neonatal Screening for Biotinidase Deficiency: An Update....Pages 303-306
GM 2 Gangliosidosis with Hexosaminidase A and B Defect: Report of a Family with Motor Neuron Disease-like Phenotype....Pages 307-310
A Comparison between Hepatocytes and Macrophages of Sphingomyelin, Cholesterol and Acid Lipase in Various Types of Niemann-Pick Disease....Pages 311-313
Juvenile Dystonia without Vertical Gaze Paralysis: Niemann—Pick Type C Disease....Pages 314-316
Pre- and Postnatal Diagnosis of the Cerebro-hepato-renal (Zellweger) Syndrome via a Simple Method Directly Demonstrating the Presence or Absence of Peroxisomes in Cultured Skin Fibroblasts, Amniocytes or Chorionic Villi Fibroblasts....Pages 317-320
Impaired Cholesterol Side Chain Cleavage Activity in Liver from Patients with the Cerebro-Hepato-Renal (Zellweger) Syndrome in Relation to the Accumulation of Di- and Trihydroxycoprostanoic Acid in Serum....Pages 321-324
Deficiency of Dihydroxyacetonephosphate Acyltransferase and Catalase-containing Particles in Patients with Infantile Refsum’s Disease....Pages 325-328
Peroxisomal Abnormalities in Rhizomelic Chondrodysplasia Punctata....Pages 329-331
Cytogenetic Studies of Three Families with Ataxia-telangiectasia (Louis—Bar Syndrome)....Pages 332-335