Organic Acidurias

Table of Contents

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   Book Overview
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   Chapter 1 Preface
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   Chapter 2 Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update.
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   Chapter 3 Long Term Outcome of Organic Acidurias: Survey of 105 French Cases (1967–1983)
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   Chapter 4 The Management and Long Term Outcome of Organic Acidaemias
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   Chapter 5 Prenatal Diagnosis of the Organic Acidurias
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   Chapter 6 Symptoms and Signs in Organic Acidurias
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   Chapter 7 Fatty Acyl-CoA Dehydrogenase Deficiency: Enzyme Measurement and Studies on Alternative Metabolism
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   Chapter 8 Glutaric Acidaemia Type II (Multiple Acyl-CoA Dehydrogenation Deficiency)
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    Chapter 9 Carnitine Metabolism and Inborn Errors
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    Chapter 10 Gas Chromatography—Mass Spectrometry (GC—MS) Diagnosis of Two Cases of Medium Chain Acyl-CoA Dehydrogenase Deficiency
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    Chapter 11 The Differential Diagnosis of Dicarboxylic Aciduria
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    Chapter 12 Animal Models for Dicarboxylic Aciduria
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    Chapter 13 Mitochondrial Oxidative Phosphorylation and Respiratory Chain: Review
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    Chapter 14 Mitochondrial Myopathies: Disorders of the Respiratory Chain and Oxidative Phosphorylation
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    Chapter 15 Lactic Acidaemia
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    Chapter 16 Pyruvate Carboxylase Deficiency
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    Chapter 17 Organic Acids in Urine of Patients with Congenital Lactic Acidoses: An Aid to Differential Diagnosis
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    Chapter 18 4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism
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    Chapter 19 4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism. I. Clinical Review
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    Chapter 20 4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism. II. Biochemical Findings
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    Chapter 21 4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism. III. Enzymology and Inheritance
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    Chapter 22 Preface to Short Communications
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    Chapter 23 Free Communications
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    Chapter 24 Electron-transferring Flavoprotein Deficiency in the Multiple Acyl-CoA Dehydrogenation Disorders, Glutaric Aciduria Type II and Ethylmalonic—adipic Aciduria
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    Chapter 25 Glutaric Aciduria Type II: Multiple Defects in Isolated Muscle Mitochondria and Deficient β-Oxidation in Fibroblasts
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    Chapter 26 Glutaryl-CoA Dehydrogenase Activity Determined with Intact Electron-transport Chain: Application to Glutaric Aciduria Type II
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    Chapter 27 Medium Chain Acyl-CoA Dehydrogenase Deficiency: Apparent K m and V max Values for Fibroblast Acyl-CoA Dehydrogenase towards Octanoyl CoA in Patient and Control Cell Lines
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    Chapter 28 Mitochondrial Myopathy with Partial Cytochrome Oxidase Deficiency and Impaired Oxidation of NADH-Linked Substrates
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    Chapter 29 L-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria.
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    Chapter 30 An evaluation of urine lactate for detection of inborn errors of metabolism.
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    Chapter 31 Metabolic Acidosis versus a Compensation of Respiratory Alkalosis in Four Children with Leigh’s Disease
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    Chapter 32 Chemical Diagnosis of Dihydrolipoyl Dehydrogenase Deficiency
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    Chapter 33 3-Hydroxy-3-Methylglutaric, 3-Methylglutaconic and 3-Methylglutaric Acids can be Non-specific Indicators of Metabolic Disease
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    Chapter 34 Different Organic Acid Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency
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    Chapter 35 Biotinidase Deficiency: The Possible Role of Biotinidase in the Processing of Dietary Protein-bound Biotin
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    Chapter 36 Biotin-responsive Multiple Carboxylase Deficiency (MCD): Deficient Biotinidase Activity Associated with Renal Loss of Biotin
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    Chapter 37 Organic Acids in Urine: Sample Preparation for GC/MS
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    Chapter 38 Experience with Prenatal Diagnosis of Propionic Acidaemia and Methylmalonic Aciduria
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    Chapter 39 Methylmalonic Aciduria with Homocystinuria
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    Chapter 40 Two Cases of ß-KetothioIase Deficiency: A Comparison
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    Chapter 41 L-Glyceric Aciduria (Primary Hyperoxaluria Type 2) in Siblings in Two Unrelated Families
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    Chapter 42 The Antenatal Diagnosis and Aid to the Management of Hereditary Tyrosinaemia by Use of a Specific and Sensitive GC—MS Assay for Succinylacetone
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    Chapter 43 The Enzyme Defects in Hereditary Tyrosinaemia Type I
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    Chapter 44 The Possibility for Prenatal Diagnosis of PKU by Linkage Analyses based on Phenylalanine Hydroxylase Locus Specific DNA-Polymorphisms
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    Chapter 45 Complementation between Argininosuccinate Synthetase-deficient and Argininosuccinate Lyase-deficient Fibroblasts Depends on Intercellular Communication
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    Chapter 46 Molecular Lesion of Non-ketotic Hyperglycinaemia
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    Chapter 47 Prolidase Deficiency: Detection of Cases by a Newborn Urinary Screening Programme
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    Chapter 48 Type Ib Glycogen Storage Disease: An In Vivo and In Vitro Study of Two Cases
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    Chapter 49 The Lactate Concentration of the Urine, a Parameter for the Adequacy of Dietary Treatment of Patients with Glucose-6-phosphatase Deficiency
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    Chapter 50 Sorbitol Dehydrogenase Deficiency in a Family with Congenital Cataracts
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    Chapter 51 Thiamin-responsive Megaloblastic Anaemia: A Disorder of Thiamin Transport?
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    Chapter 52 Acid esterase deficiency: comparison of biochemical findings in infantile and adult forms.
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    Chapter 53 Steroid Sulphatase Deficiency. Steroid Sulphatase and Arylsulphatase C Determination in Normal and Affected Fibroblasts
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    Chapter 54 Steroid Sulphatase Deficiency is Present in Patients with the Syndrome’ Ichthyosis and Male Hypogonadism’ and with’ Rud Syndrome’