Studies in Inherited Metabolic Disease: Lipoproteins Ethical Issues

Front Matter....Pages i-3
The Biochemistry of Lipoproteins....Pages 4-17
Clinical Consequences of Hyperlipidaemia....Pages 18-28
Lipase Deficiencies....Pages 29-32
The Use of Recombinant DNA Techniques for the Diagnosis of Familial Hypercholesterolaemia....Pages 33-44
Familial LCAT Deficiency and Fish-Eye Disease....Pages 45-56
Biochemical, Clinical, Genetic and Metabolic Studies of Hyperapo-β-lipoproteinaemia....Pages 57-73
Apolipoprotein Polymorphism and Multifactorial Hyperlipidaemia....Pages 74-86
A Neonatal Screening Approach to the Detection of Familial Hypercholesterolaemia and Family-based Coronary Prevention....Pages 87-90
The Paediatric Lipid Clinic in Birmingham....Pages 91-93
Recent Advances in Cystic Fibrosis....Pages 94-109
Front Matter....Pages 110-110
Antenatal Diagnosis and the Termination of Pregnancy — What the Churches have to Say....Pages 111-119
Ethics and Clinical Practice....Pages 120-129
Front Matter....Pages 131-134
An Erroneous Apolipoprotein E-3 Band in High Density Lipoprotein Fractions....Pages 135-138
Histochemical Abnormalities in Liver and Jejunal Biopsies from a Case of Cholesterol Ester Storage Disease....Pages 139-142
Cholesteryl Ester Storage Disease: Risk Factors for Atherosclerosis in a 15-Year-Old Boy....Pages 143-145
Cholesteryl Ester Storage Disease with Secondary Lecithin Cholesterol Acyl Transferase Deficiency....Pages 146-148
A Treatable Familial Neuromyopathy with Vitamin E Deficiency, Normal Absorption, and Evidence of Increased Consumption of Vitamin E....Pages 149-152
Fat Malabsorption, Vitamin E Deficiency, Scoliosis and Cataracts....Pages 153-154
Familial High-Density Lipoprotein Deficiency (Tangier Disease): The Third Italian Case....Pages 155-157
Failure of Taurine to Improve Fat Absorption in Cystic Fibrosis....Pages 158-160
Front Matter....Pages 131-134
Peroxisomes and Peroxisomal Functions in Hyperpipecolic Acidaemia....Pages 161-164
Bile Acid Analyses in “Pseudo-Zellweger” Syndrome; Clues to the Defect in Peroxisomal β-Oxidation....Pages 165-168
Adrenomyeloneurodystrophy with Late Cerebral Involvement and Evidence of a Multiple Autoimmune Disorder....Pages 169-172
X-Linked Adrenoleukodystrophy: Identification of the Primary Defect at the Level of a Deficient Peroxisomal Very Long Chain Fatty Acyl-CoA Synthetase Using a Newly Developed Method for the Isolation of Peroxisomes from Skin Fibroblasts....Pages 173-177
Infanto-Juvenile Encephaloneuropathy and Pigmentary Retinopathy in a Girl Associated with Congenital Adrenal Insufficiency and Altered Plasma Medium-Chain Fatty Acid Levels....Pages 178-182
Familial Hypoketotic Hypoglycaemia Associated with Peripheral Neuropathy, Pigmentary Retinopathy and C 6 –C 14 Hydroxydicarboxylic Aciduria. A New Defect in Fatty Acid Oxidation?....Pages 183-185
A New Type of Mitochondrial Encephalomyopathy with Stroke-like Episodes due to Cytochrome Oxidase Deficiency....Pages 186-188
Cytochrome c Oxidase Deficiency in Three Patients with Leigh’s Disease....Pages 189-192
Histochemical, Ultrastructural and Biochemical Study of Muscle Mitochondria in Leber’s Hereditary Optic Atrophy....Pages 193-197
Morphometric and Biochemical Study of Muscle Mitochondria in Adult Chronic Progressive External Ophthalmoplegia....Pages 198-201
Cytochrome c Oxidase: Organ-Specific Isoenzymes and Deficiencies....Pages 202-204
Enzymatic Heterogeneity in Primary Hyperoxaluria Type 1 (Hepatic Peroxisomal Alanine: Glyoxylate Aminotransferase Deficiency)....Pages 205-207
Diversity in Residual Alanine Glyoxylate Aminotransferase Activity in Hyperoxaluria Type I: Correlation with Pyridoxine Responsiveness....Pages 208-211
The Subcellular Metabolism of Glyoxylate in Primary Hyperoxaluria Type 1: The Relationship Between Glycine Production and Oxalate Overproduction....Pages 212-214
Primary Hyperoxaluria and L -Glyceric Aciduria in the Cat....Pages 215-217
Clinical Effects of Serine Medication in Non-ketotic Hyperglycinaemia Due to Deficiency of P-Protein of the Glycine Cleavage Complex....Pages 218-220
The Use of Phenylpropionic Acid as a Loading Test for Medium-Chain Acyl-CoA Dehydrogenase Deficiency....Pages 221-224
Odd-Numbered Long-Chain Fatty Acid Contents in Erythrocyte Membrane Phospholipids in Patients with an Impaired Propionate Utilization....Pages 225-228
Mevalonic Aciduria: Pathobiochemical Effects of Mevalonate Kinase Deficiency on Cholesterol Metabolism in Intact Fibroblasts....Pages 229-232
A Patient with Mevalonic Aciduria Presenting with Hepatosplenomegaly, Congenital Anaemia, Thrombocytopenia and Leukocytosis....Pages 233-236
Front Matter....Pages 131-134
A Closer Look at the Eye in Homocystinuria: A Screened Population....Pages 237-239
Peptiduria Presumably Caused by Aminopeptidase-P Deficiency. A New Inborn Error of Metabolism....Pages 240-242
Early Morning Urine Galactitol Levels in Relation to Galactose Intake: A Possible Method of Monitoring the Diet in Galactokinase Deficiency....Pages 243-245
Cataracts in Children with Classical Galactosaemia and in their Parents....Pages 246-248
A Patient with Severe Type of Epimerase Deficiency Galactosaemia....Pages 249-251
Branching Enzyme in Erythrocytes. Detection of Type IV Glycogenosis Homozygotes and Heterozygotes....Pages 252-254
 β -Mannosidosis in Two Brothers with Hearing Loss....Pages 255-258
Infantile Sialic Acid Storage Disease in Two Siblings....Pages 259-262
Evaluation of Lysosomal Enzymes in Uncultured and Cultured Chorionic Villi and Amniocytes....Pages 263-266
Back Matter....Pages 267-268