Lipids and Lipidoses

ISBN-13: 9783642873690 / Angielski / Miękka / 2012 / 622 str.

G. Schettler; Gunter Schlierf

Opis

Advances which have been made in the field of lipid chemistry and bio- chemistry during the last ten years mainly are the results of progress in metho- dology. The introduction of isotopic and chromatographic techniques has not only enriched our knowledge of normal lipid metabolism but has also greatly enhanced the understanding of the various lipidoses. This is well illustrated by a comparison of the contents of the present monograph with those of my 1955 review in Handbuch der Inneren Medizin (Springer). In addition to better information about the classic lipid thesaurismoses Nie- mann-Pick disease, Gaucher's disease and Tay-Sachs disease, the number of hereditary lipid storage diseases has increased considerably through the recogni- tion of new syndromes such as metachromatic leukodystrophy, Fabry's disease, Refsum's disease (heredopathia atactica polyneuritiformis), a-p-lipoproteinemia, and Tangier disease. Conversely, disorders such as Hand-Scholler-Christian disease which has been considered a lipidosis up to 1958 (THANNHAUSER) must now be differentiated from the hereditary disturbances of lipid metabolism. Essential hyperlipemia which at one time seemed to be a well defined entity has now been recognized to consist of a number of subgroups, whose pathogeneses appear to be quite different, and whose classification is by no means definite. Similar problems exist for "essential hypercholesterolemia". Since the knowledge of today is the key for the solutions of tomorrow, we are fortunate that the chapters on lipidoses are supplemented by a comprehensive account of lipid chemistry and biochemistry which has been coordinated by W. STOFFEL.

Spis treści

I. Lipids.- Biochemistry, Physiology, Methodology.- The Chemistry of Mammalian Lipids.- A. Simple Lipids.- I. Glycerides.- 1. Monoglycerides.- 2. D- ?, ß-Diglycerides.- 3. Triglycerides.- II. Cholesterol and Cholesterol Esters.- III. Büe Acids.- B. Complex Lipids.- I. Glycerophospholipids.- 1. Phosphatidic Acids.- 2. Phosphatidyl Cholines (Lecithins).- 3. Phosphatidyl Ethanolamines (Cephalins).- 4. Phosphatidyl Serines.- 5. Lyso-glycerophospholipids.- 6. Cardiolipin.- 7. Phosphatidyl Glycerol.- 8. Phosphatidyl Inositols.- 9. Choline and Ethanolamine Plasmalogens.- 10. Glyceryl Ether Phospholipids.- II. Sphingolipids.- 1. Sphingomyelin.- 2. Glycosphingolipids.- a) Cerebrosides.- b) Sulfatides.- c) Ceramide-polyhexosides.- d) Gangliosides.- III. Fatty Acids and Fatty Aldehydes.- IV. Prostaglandins.- References.- C. Fatty Acid Oxydation.- I. ß-Oxydation of Saturated Fatty Acids.- II ß- Oxydation of Unsaturated Fatty Acids.- III. a-Oxydation.- D. Biosynthesis of Fatty Acids.- I. Biosynthesis of Saturated Fatty Acids.- II. Biosynthesis of Mono- and Polyunsaturated Fatty Acids.- a) Monoenoic Acids.- b) Polyunsaturated Fatty Acids.- c) Control Mechanisms of Fatty Acid Synthesis.- References.- Biochemistry of Triglycerides.- I. Absorption from the Intestine.- 1. Lipolysis in the Lumen.- a) Pancreatic Lipase.- b) The Extent of Hydrolysis.- c) Emulsification.- 2. Uptake and Metabolism in the Intestinal Cells.- a) Uptake.- b) Resynthesis of Triglycerides in Mucosal Cells.- c) Phospholipids.- d) Fate of Short Chain Fatty Acids.- II. Metabolism of Lymph and Blood Chylomicra.- 1. Rate and Site of Removal.- 2. Clearing Factor and the Mechanism of Uptake by the Tissues.- III. Metabolism of Triglycerides in the Liver.- 1. Uptake and Release.- 2. Synthesis of Triglycerides.- 3. Fatty Livers.- IV. Metabolism of Triglycerides in Adipose Tissue.- 1. Deposition of Triglycerides.- 2. Mobilization of Triglycerides.- References.- Biochemistry of Steroids.- I. Biosynthesis.- 1. The Biosynthesis of Cholesterol.- 2. Other Sterols.- II. Conversion of Cholesterol to Other Steroids.- 1. Bile Acids.- 2. Adrenocortical Steroid Hormones.- 3. Sex Hormones.- 4. Neutral Sterols.- References.- Biochemistry of Phosphatides.- I. Biosynthesis of Glycerophosphatides.- 1. Phosphatide Acid.- 2. Phosphatidyl Choline (Lecithin).- 3. Choline Plasmalogen.- 4. Phosphatidyl Ethanolamine.- 5. Ethanolamine Plasmalogen.- 6. Glycerol Ether Phosphatides.- 7. Phosphatidyl Serine.- 8. Phosphatidyl Inositol.- 9. Polyphosphoinositides.- 10. hosphatidyl Glycerol.- 11. Cardiolipin.- II. Degradation of Glycerophosphates.- 1. Phosphatidyl Choline (Lecithin).- a) Phospholipase A.- b) Phospholipase B (Lysophospholipase).- c) Phospholipase C.- d) Phospholipase D.- e) GPC Diesterase.- f) Phosphomonoesterases.- 2. Phosphatidyl Ethanolamine.- 3. Phosphatidyl Serine.- 4. Phosphatidyl Glycerol.- 5. Cardiolipin.- 6.Phosphatide Acid.- 7. Plasmalogens.- 8. Phosphatidyl Inositol.- 9.Polyphosphoinositides.- III. Conclusion.- References.- Biochemistry of Sphingosine Containing Lipids.- Nomenclature.- I. Studies on the Synthesis of Sphingolipids.- Sphingosine and Dihydrosphingosine.- II. Studies on the Intact Animal.- 1. Developmental Studies.- 2. Studies Conducted in Vivo with Isotopes.- a) Sphingosine.- b) Carbohydrates.- c) Sulfate.- d) Fatty Acids.- 3. Cerebroside and Ceramide Metabolism.- a) Turnover Studies.- b) Metabolic Pathways.- c) Immunology of the Sphingolipids.- d) Diseases Involving Sphingolipids.- References.- Lipoproteins.- Composition and Properties of Plasma Lipoproteins.- 1. Definition of a Lipoprotein Class.- 2. Homogeneity: Distribution in Size and Shape.- 3. Chylomicrons.- 4. Very Low Density and Low Density Lipoproteins.- 5. High Density Lipoproteins.- 6. The Analysis of Chylomicrons and Lipoproteins.- References.- Methods for Separation and Determination of Lipids.- I. Isolation of Lipids.- II. Quantitative Determination of Total Lipids.- III. Separation of Lipid Classes.- a) Fractionation into Polar and Unpolar Lipids.- b) Fractionation into Main Lipid Classes.- IV. Separation of Individual Members of Lipid Classes.- V. Quantitative Detemiination of Lipid Classes.- a) Cholesterol and Cholesterol Esters.- b) Phospholipids.- c) Glycerides.- d) Total Fatty Acids.- e) Free Fatty Acids.- f) Bile Acids.- g) Other Lipids.- VI. Determination of Lipoproteins.- VII. Determination of Lipoprotein Lipase Activity.- VIII. Normal Lipid Concentrations.- References.- II. Lipidoses.- Clinic, Pathology, Pathophysiology, Genetics.- Gangliosidoses.- I. Congenital Amaurotic Family Idiocy.- Definition and Introduction.- Clinical Manifestations.- Pathology.- Results of Lipid Analyses.- Discussion.- Diagnosis.- II. Infantile Amaurotic Family Idiocy (Tay-Sachs Disease).- Definition and Introduction.- Historical Review.- Incidence (Age, Sex, Race).- Clinical Manifestations.- Electroencephalography.- Cerebrospinal Fluid.- Serum.- Enzymes in Plasma and Cerebrospinal Fluid.- Pathology.- Brain.- Eye.- Other Organs.- Histology.- Membranous Cytoplasmic Bodies.- Histochemistry.- Results of Lipid Analyses.- Brain.- The Gangliosides in Tay-Sachs Disease.- Diagnosis.- Pathogenetic Aspects.- III. Late-Infantile Amaurotic Family Idiocy.- Definition and Introduction.- Clinical Manifestations.- Pathology.- Results of Lipid Analyses.- IV. Juvenile Amaurotic Family Idiocy.- Definition and Introduction.- Incidence (Age, Sex, Race).- Clinical Manifestations.- Cerebrospinal Fluid.- Electroencephalography.- Hematology.- Serum.- Pathology.- The Stored Material.- V. Adult Amaurotic Family Idiocy.- Definition and Introduction.- Results of Lipid Analyses.- VI. Neurovisceral Gangliosidoses.- Definition and Introduction.- Case Reports.- Results of Lipid Analyses.- VII. Hurler’s Disease (Gargoylism).- Definition and Introduction.- Clinical Manifestations.- Laboratory Findings.- Pathology.- Results of Lipid Analyses.- Therapy of Gangliosidoses.- References.- Gaucher’s Disease.- Definition and Introduction.- Historical Review.- Incidence (Age, Sex, Race).- Clinical Manifestations.- Hematology.- Other Laboratory Findings.- Pathology.- Gaucher Cells.- Spleen.- Liver.- Lymph Nodes.- Bones and Bone Marrow.- Other Organs.- Central Nervous System.- Results of Lipid Analyses.- Serum Lipids.- Brain Lipids.- Tissue Lipids.- Chemistry of the Stored Cerebroside.- Sphingosine.- Fatty Acid Pattern.- Hexose.- Pathogenetic Considerations.- Treatment.- References.- Niemann-Pick Disease.- Definition and Introduction.- Historical Review.- Incidence (Age, Sex, Race).- Clinical Manifestations.- Neurology.- Hematology.- Other Laboratory Findings.- Bones.- Skin.- Eyes.- Course and Prognosis.- Pathology.- Niemann-Pick Cells.- Spleen.- Liver.- Lymph Nodes.- Bone Marrow.- Thymus.- Lungs.- Kidneys.- Other Organs.- Central Nervous System.- Results of Lipid Analyses.- Brain Lipids.- Other Organs.- Serum Lipids.- Pathogenetic Aspects.- Diagnosis.- Treatment.- References.- Metachromatic Leucodystrophy.- Definition and Introduction.- Historical Review.- Incidence (Age, Sex, Race).- Clinical Manifestations.- Cerebrospinal Fluid.- Blood.- Urine.- Cholecystography.- Pathology.- Central Nervous System.- Extraneural Tissues.- Kidneys.- Gallbladder.- Other Organs.- Histochemical Findings.- Results of Lipid Analyses.- Brain.- Other Organs.- The Stored Lipid.- The Normal Sulfatides.- Sulfatides in Metachromatic Leucodystrophy.- Diagnosis.- Pathogenetic Aspects.- References.- Angiokeratoma Corporis Diffusum (Fabry’s Disease).- Definition and Introduction.- Historical Review.- Incidence (Age, Sex, Race).- Clinical Manifestations.- Skin Lesions.- Kidneys.- Cardiac Disturbances.- Edema.- Neurologic Disturbances.- Eyes.- Other Signs and Symptoms.- Serum.- Hematology.- Urine.- Pathology.- Vasculature.- Kidneys.- Heart and Skeletal Muscle.- Skin.- Nervous System.- Reticuloendothelial Tissues.- Other Organs.- Results of Lipid Analyses.- Pathogenetic Aspects.- Diagnosis.- Treatment.- References.- Heredopathia Atactica Polyneuritiformis (Refsum’s Disease).- Definition and Introduction.- Historical Review.- Incidence (Age, Sex, Race).- Clinical Manifestations.- Neurologic Disturbances.- Ophthalmologic Disturbances.- Cardiac Disturbances.- Skin Changes.- Malformations.- Other Findings.- Laboratory Findings.- Serum.- Cerebrospinal Fluid.- Pathology.- Peripheral Nerves.- Spinal Cord.- Brain.- Eyes.- Musculature.- Heart.- Other Organs.- Results of Lipid Analyses.- Serum Lipids.- RedCeUs.- Organ Lipids.- The Atypical Fatty Acid.- Diagnosis.- Treatment.- Pathogenetic Aspects.- References.- A-?-Lipoproteinemia.- Definition and Introduction.- Historical Review.- Incidence (Age, Sex, Race, Family).- Clinical Manifestations.- Neurologic Disturbances.- Skeletal Abnormalities.- Ophthalmologic Disturbances.- Hematologic Abnormalities.- Gastrointestinal Disturbances.- Small Bowel Biopsy.- Pathology.- Central Nervous System.- Other Organs.- Results of Lipid Analyses.- Serum Lipids.- Lipoproteins.- Red Cells.- Small Intestine.- Pathogenetic Aspects.- Diagnosis.- Treatment.- References.- Tangier Disease.- Definition and Introduction.- Historical Remarks.- Incidence (Age, Sex, Race, Family).- Clinical Manifestations.- Hematology.- Serum.- Histology.- Spleen.- Liver Biopsy.- Bowel Biopsy.- Other Organs.- Results of Lipid Analyses.- Plasma Lipids.- Serum Lipoproteins.- Chylomicrons.- Tissue Lipids.- Pathogenetic Aspects.- Diagnosis.- References.- Essential Hypercholesterolemia..- Definition and Introduction.- Historical Review.- Incidence (Age, Sex, Race, Family).- Clinical Manifestations.- Xanthomatosis.- Corneal Arcus.- Cardiovascular Xanthomatosis.- Laboratory Findings.- Cholesterol.- Phospholipids.- Triglycerides.- Lipoproteins.- Other Lipids.- Analysis of Xanthomas.- Histopathology of Xanthomas.- Associated Diseases.- Rheumatic Diseases.- Dupuytren’s Contracture.- Gout.- Hypertension.- Diagnosis.- Treatment.- Diet.- Nicotinic Acid.- Ethyl-p-chlorophenoxyisobutyrate.- Cholestyramine.- Sitosterol.- Hormones.- Heparin and Heparinoid Drugs.- Other Drugs.- Pathogenetic Aspects.- Summary and Conclusions.- References.- Essential Hyperlipemia.- Definition and Introduction.- Historical Review.- Epidemiology and Incidence.- Basic Concepts of Triglyceride Transport.- Exogenous Long Chain Triglycerides.- Endogenous Triglycerides.- Classification and Pathologie Physiology of EHL.- a) Exogenous Hyperglyceridemia.- b) Endogenous Hyperglyceridemias.- 1) "Pure" Carbohydrate-induced Hyperglyceridemia.- 2) Endogenous, Carbohydrate and Fat Inducible Hyperglyceridemia.- 3) Endogenous Hyperglyceridemia with Essential Hypercholesterolemia.- Role of Insulin.- Clinical Manifestations.- Xanthomatosis.- Hepatosplenomegaly.- Abdominal Crises.- Pancreatitis.- Lipemia Retinalis.- Histopathology of Essential Hyperlipemia.- Laboratory Findings.- Diagnosis.- Fat Loading.- Complications.- Coronary Heart Disease (CHD).- Interstitial Keratitis Lipemica.- Associated Disordes.- Management.- Summary and Conclusions.- References.- Genetic Aspects of Lipidoses.- I. The Sphingolipidoses.- a) Sphingomyelinoses.- b) Gangliosidoses.- 1. Infantile Amaurotic Family Idiocy.- 2. Juvenile Amaurotic Family Idiocy.- 3. Further Amaurotic Idiocies.- c) Cerebrosidoses.- II Further Rare Lipidoses.- a) The Leucodystrophies.- b) Familial Cholesterolosis with High-Density Lipoprotein Deficiency.- c) A-?-Lipoproteinemia.- d) Heredopathia Atactica Polyneuritiformis.- e) Further Rare Anomalies of Lipid Metabolism.- III. Essential Familial Hyperlipidemias.- a) Essential Familial Hyperlipemias.- b) Essential Familial Hypercholesterolemia.- IV. Other Diseases Commonly Grouped with the Lipidoses.- a) Mucopolysaccharidoses (Iipochondrodystrophy, Gargoylism).- b) Hand-SchüUer-Christian’s Disease.- References.- Author Index.