Studies in Inherited Metabolic Disease: Prenatal and Perinatal Diagnosis

Front Matter....Pages i-xii
Preface....Pages 1-1
Family Influences on A. E. Garrod’s Thinking....Pages 2-8
The Salience of Garrod’s ‘Molecular Groupings’ and ‘Inborn Factors in Disease’....Pages 9-24
Clinical Approach to Inherited Metabolic Diseases in the Neonatal Period: A 20-year Survey....Pages 25-41
Acute Metabolic Encephalopathy: A Review of Causes, Mechanisms and Treatment....Pages 42-54
A Clinician’s View of the Mass Screening of the Newborn for Inherited Diseases: Current Practice and Future Considerations....Pages 55-63
A Clinical Biochemist’s View of the Investigation of Suspected Inherited Metabolic Disease....Pages 64-88
Genetic Aspects of Prenatal Diagnosis....Pages 89-96
Obstetric Aspects of Prenatal Diagnostic Methods....Pages 97-104
Chorionic Villus Sampling: Diagnostic Uses and Limitations of Enzyme Assays....Pages 105-117
Prenatal and Perinatal Diagnosis of Peroxisomal Disorders....Pages 118-134
Prenatal Diagnosis and Prevention of Inherited Abnormalities of Collagen....Pages 135-173
Prenatal Diagnosis of Duchenne Muscular Dystrophy: A Three-year Experience in a Rapidly Evolving Field....Pages 174-190
Prospects for Gene Therapy Now and in the Future....Pages 191-201
Prenatal Diagnosis of Disorders of Galactose Metabolism....Pages 202-206
Prenatal and Postnatal Diagnosis of Menkes Disease, an Inherited Disorder of Copper Metabolism....Pages 207-214
Disorders of Mitochondrial β-Oxidation: Prenatal and Early Postnatal Diagnosis and their Relevance to Reye’s Syndrome and Sudden Infant Death....Pages 215-230
Gene Mapping of Mineral Metabolic Disorders....Pages 231-245
Preface to Short Communications....Pages 247-256
15 Years of Prenatal Diagnosis of Inherited Metabolic Diseases: the Lyon Experience....Pages 257-259
A Survey on Prenatal Diagnosis of Inherited Metabolic Diseases in Japan....Pages 260-262
Prenatal Diagnosis of Inherited Metabolic Disease by Chorionic Villus Analysis: The Edinburgh Experience....Pages 263-266
Prenatal Diagnosis of Inherited Metabolic Disorders by Stable Isotope Dilution GC-MS Analysis of Metabolites in Amniotic Fluid: Review of Four Years Experience....Pages 267-270
Prenatal Diagnosis of Propionic and Methylmalonic Acidaemia by Stable Isotope Dilution Analysis of Amniotic Fluid....Pages 271-273
Successful First Trimester Diagnosis in a Pregnancy at Risk for Propionic Acidaemia....Pages 274-276
First Trimester Prenatal Exclusion of Glutaryl-CoA Dehydrogenase Deficiency (Glutarie Aciduria Type 1)....Pages 277-279
Early Prenatal Diagnosis in Two Pregnancies at Risk for Glutaryl-CoA Dehydrogenase Deficiency....Pages 280-282
First Trimester Prenatal Diagnosis of 3-Hydroxy-3-Methylglutaric Aciduria....Pages 283-285
Enzymatic Prenatal Diagnosis of Primary Hyperoxaluria Type 1: Potential and Limitations....Pages 286-288
First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III....Pages 289-291
First Trimester Prenatal Diagnosis of Glycogen Storage Disease Type III....Pages 292-294
Prenatal Diagnosis of Atypical Phenylketonuria....Pages 295-298
First Trimester Prenatal Diagnosis of Wolman Disease....Pages 299-300
Prenatal Diagnosis of Zellweger Syndrome by Direct Visualization of Peroxisomes in Chorionic Villus Fibroblasts by Immunofluorescence Microscopy....Pages 301-304
Prenatal Diagnosis of Cystic Fibrosis: Experience of Two Complementary Methods....Pages 305-307
Prenatal Diagnosis of Cystic Fibrosis Using Closely Linked DNA Probes....Pages 308-310
Plasma Amino Acids During the First 24 Hours of Life: Feasibility of Early Diagnosis in the Newborn at Risk of Amino Acid Disorders....Pages 311-314
Perinatal Diagnosis of Type 1c Glycogen Storage Disease....Pages 315-317
A ‘Blood Spot’ Androstenedione Radioimmunoassay Able to Detect Congenital Adrenal Hyperplasia....Pages 318-320
Generalised Dicarboxylic Aciduria: A Common Finding in Neonates....Pages 321-324
Comparison of Urinary Acylglycines and Acylcarnitines as Diagnostic Markers of Medium-chain Acyl-CoA Dehydrogenase Deficiency....Pages 325-328
Aspartoacylase Deficiency: The Enzyme Defect in Canavan Disease....Pages 329-331
Iatrogenic Skin Lesions in Phenylketonuric Children due to a Low Tyrosine Intake....Pages 332-334
Primapterinuria: A New Variant of Atypical Phenylketonuria....Pages 335-338
Tyrosinaemia Type I: Orthotopic Liver Transplantation as the Only Definitive Answer to a Metabolic as well as an Oncological Problem....Pages 339-342
Lens Hexitols and Cataract Formation During Lactation in a Woman Heterozygote for Galactosaemia....Pages 343-345
A Method for the Diagnosis of Glycogen Storage Disease Type Ib using Polymorphonuclear Leukocytes....Pages 346-348
Familial NADH: Q 1 Oxidoreductase (Complex I) Deficiency: Variable Expression and Possible Treatment....Pages 349-351
Mitochondrial Myopathies: Multiple Enzyme Defects in the Respiratory Chain....Pages 352-354
Familial Mitochondrial Complex I Deficiency with an Abnormal Mitochondrial Encoded Protein....Pages 355-357
Peroxisomal Enzyme Deficiency in X-linked Dominant Conradi—Hünermann Syndrome....Pages 358-360
The Heterogeneity of Leber’s Congenital Amaurosis....Pages 361-364
Hurler-Scheie Phenotype Associated with Consanguinity....Pages 365-368
Detection of Fabry’s Disease Carriers by Enzyme Assay of Hair Roots....Pages 369-371
Immunohistochemical Demonstration of GM 2 -Ganglioside in the Central Nervous System of a 19-week-old Fetus of Tay-Sachs Disease....Pages 372-374
Visualization of the Sugar Moiety in Lymphoid Cell Lines from Fabry’s Disease by Lectin Binding....Pages 375-378
Identification of Intact Dolichol-linked Oligosaccharides in the Brains of Patients with Ceroid-Lipofuscinosis (Batten’s Disease)....Pages 379-382
Study of Pathogenesis in Twitcher Mouse, an Enzymatically Authentic Model of Human Krabbe’s Disease....Pages 383-385
Nuclear Magnetic Resonance Brain Study in a Case of Wilson Disease....Pages 386-388
Vitamin C Treatment in Menkes’ Disease: Failure to Affect Biochemical and Clinical Parameters....Pages 389-392
Copper Histidinate Therapy in Menkes’ Disease: Prevention of Progressive Neurodegeneration....Pages 393-396