Organic Acidurias: Proceedings of the 21st Annual Symposium of the SSIEM, Lyon, September 1983 The combined supplements 1 and 2 of Journal of Inherited Metabolic Disease Volume 7 (1984)

Front Matter....Pages i-x
Preface....Pages 1-1
Hudson Memorial Lecture Neonatal Management of Organic Acidurias. Clinical Update....Pages 2-9
Long Term Outcome of Organic Acidurias: Survey of 105 French Cases (1967–1983)....Pages 10-12
The Management and Long Term Outcome of Organic Acidaemias....Pages 13-17
Prenatal Diagnosis of the Organic Acidurias....Pages 18-22
Symptoms and Signs in Organic Acidurias....Pages 23-27
Fatty Acyl-CoA Dehydrogenase Deficiency: Enzyme Measurement and Studies on Alternative Metabolism....Pages 28-32
Glutaric Acidaemia Type II (Multiple Acyl-CoA Dehydrogenation Deficiency)....Pages 33-37
Carnitine Metabolism and Inborn Errors....Pages 38-43
Gas Chromatography—Mass Spectrometry (GC—MS) Diagnosis of Two Cases of Medium Chain Acyl-CoA Dehydrogenase Deficiency....Pages 44-47
The Differential Diagnosis of Dicarboxylic Aciduria....Pages 48-51
Animal Models for Dicarboxylic Aciduria....Pages 52-56
Mitochondrial Oxidative Phosphorylation and Respiratory Chain: Review....Pages 57-61
Mitochondrial Myopathies: Disorders of the Respiratory Chain and Oxidative Phosphorylation....Pages 62-68
Lactic Acidaemia....Pages 69-73
Pyruvate Carboxylase Deficiency....Pages 74-78
Organic Acids in Urine of Patients with Congenital Lactic Acidoses: An Aid to Differential Diagnosis....Pages 79-89
4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism....Pages 90-90
4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism. I. Clinical Review....Pages 90-92
4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism. II. Biochemical Findings....Pages 92-94
4-Hydroxybutyric Aciduria: A New Inborn Error of Metabolism. III. Enzymology and Inheritance....Pages 95-96
Preface to Short Communications....Pages 97-97
Free Communications....Pages 97-98
Electron-transferring Flavoprotein Deficiency in the Multiple Acyl-CoA Dehydrogenation Disorders, Glutaric Aciduria Type II and Ethylmalonic—adipic Aciduria....Pages 99-100
Glutaric Aciduria Type II: Multiple Defects in Isolated Muscle Mitochondria and Deficient β-Oxidation in Fibroblasts....Pages 101-102
Glutaryl-CoA Dehydrogenase Activity Determined with Intact Electron-transport Chain: Application to Glutaric Aciduria Type II....Pages 103-104
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....Pages 105-106
Mitochondrial Myopathy with Partial Cytochrome Oxidase Deficiency and Impaired Oxidation of NADH-Linked Substrates....Pages 107-108
L-Carnitine Insufficiency in Disorders of Organic acid Metabolism: Response to L-Carnitine by Patients with Methylmalonic Aciduria and 3-Hydroxy-3-methylglutaric Aciduria....Pages 109-110
An Evaluation of Urine Lactate for Detection of Inborn Errors of Metabolism....Pages 111-112
Metabolic Acidosis versus a Compensation of Respiratory Alkalosis in Four Children with Leigh’s Disease....Pages 113-114
Chemical Diagnosis of Dihydrolipoyl Dehydrogenase Deficiency....Pages 115-116
3-Hydroxy-3-Methylglutaric, 3-Methylglutaconic and 3-Methylglutaric Acids can be Non-specific Indicators of Metabolic Disease....Pages 117-118
Different Organic Acid Patterns in Urine and in Cerebrospinal Fluid in a Patient with Biotinidase Deficiency....Pages 119-120
Biotinidase Deficiency: The Possible Role of Biotinidase in the Processing of Dietary Protein-bound Biotin....Pages 121-122
Biotin-responsive Multiple Carboxylase Deficiency (MCD): Deficient Biotinidase Activity Associated with Renal Loss of Biotin....Pages 123-125
Organic Acids in Urine: Sample Preparation for GC/MS....Pages 126-126
Experience with Prenatal Diagnosis of Propionic Acidaemia and Methylmalonic Aciduria....Pages 127-128
Methylmalonic Aciduria with Homocystinuria....Pages 129-130
Two Cases of ß-KetothioIase Deficiency: A Comparison....Pages 131-132
L-Glyceric Aciduria (Primary Hyperoxaluria Type 2) in Siblings in Two Unrelated Families....Pages 133-134
The Antenatal Diagnosis and Aid to the Management of Hereditary Tyrosinaemia by Use of a Specific and Sensitive GC—MS Assay for Succinylacetone....Pages 135-136
The Enzyme Defects in Hereditary Tyrosinaemia Type I....Pages 137-138
The Possibility for Prenatal Diagnosis of PKU by Linkage Analyses based on Phenylalanine Hydroxylase Locus Specific DNA-Polymorphisms....Pages 139-140
Complementation between Argininosuccinate Synthetase-deficient and Argininosuccinate Lyase-deficient Fibroblasts Depends on Intercellular Communication....Pages 141-142
Molecular Lesion of Non-ketotic Hyperglycinaemia....Pages 143-144
Prolidase Deficiency: Detection of Cases by a Newborn Urinary Screening Programme....Pages 145-146
Type Ib Glycogen Storage Disease: An In Vivo and In Vitro Study of Two Cases....Pages 147-148
The Lactate Concentration of the Urine, a Parameter for the Adequacy of Dietary Treatment of Patients with Glucose-6-phosphatase Deficiency....Pages 149-150
Sorbitol Dehydrogenase Deficiency in a Family with Congenital Cataracts....Pages 151-152
Thiamin-responsive Megaloblastic Anaemia: A Disorder of Thiamin Transport?....Pages 153-154
Acid Esterase Deficiency: Comparison of Biochemical Findings in Infantile and Adult Forms....Pages 155-156
Steroid Sulphatase Deficiency. Steroid Sulphatase and Arylsulphatase C Determination in Normal and Affected Fibroblasts....Pages 157-158
Steroid Sulphatase Deficiency is Present in Patients with the Syndrome’ Ichthyosis and Male Hypogonadism’ and with’ Rud Syndrome’....Pages 159-160