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) - Brossura

Brossura

ISBN 10: 9401089752 ISBN 13: 9789401089753

Casa editrice: Springer, 2012

Riassunto

The first symposium of the Society for the Study ofInborn valuable overview of advances in the application of Errors of Metabolism (SSIEM) on the organic acid urias chemical analysis of amniotic fluid to their early prenatal was held in Leeds in 1971 and published by the Society in diagnosis. The continuing complexity of diagnosis, 1972 (the 9th Annual SSIEM Symposium). Although biochemistry and aetiology ofthe dicarboxylic acid urias relatively few of these disorders were recognized at that has been admirably reduced by the papers from Dr time, the symposium was prompted by the then recent Gregersen and Dr Goodman, with Dr Goodman clearly identification between 1966 and 1970 of isovaleric identifying the primary defect in the polycystic variant of acidaemia, methylmalonic aciduria, propionic aci­ multiple acyl CoA dehydrogenase deficiency ("glutaric daemia, pyroglutamic aciduria and 3-methylcrotonyl­ aciduria type II") as a deficiency of electron transfer glycinuria. Identification and diagnosis of diseases of this flavoprotein (ETF) dehydrogenase. Dr Engel's paper kind had greatly improved primarily through the also provides a useful overview from currently available application of gas chromatography and mass spectro­ data of the place of L-carnitine in the organic acid urias, metry to medicine, although the complexity of the an area in which rapid developments are occurring. The underlying biochemistry and the genetic heterogeneity of emerging understanding of the aetiologies of the the organic acidurias was not then realised.

Su questo libro

Contenuti

Preface.- Section I: Clinical aspects: management and outcome.- Neonatal management of organic acidurias. Clinical update (Hudson Memorial Lecture).- Long term outcome of organic acidurias: survey of 105 French cases (1967-1983).- The management and long term outcome of organic acidaemias.- Prenatal diagnosis of the organic acidurias.- Symptoms and signs in organic acidurias.- Section II: Dicarboxylic acidurias and acyl-CoA dehydrogenase deficiencies.- Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism.- Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency).- Carnitine metabolism and inborn errors.- Gas chromatography—mass spectrometry (GC—MS) diagnosis of 2 cases of medium chain acyl-CoA dehydrogenase deficiency.- The differential diagnosis of dicarboxylic aciduria.- Animal models for dicarboxylic aciduria.- Section III: Disorders of the respiratory chain and the lactic acidaemias.- Mitochondrial oxidative phosphorylation and respiratory chain: review.- Mitochondrial myopathies: disorders of the respiratory chain and oxidative phosphorylation.- Lactic acidaemia.- Pyruvate carboxylase deficiency.- Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.- Section IV: A new disorder: 4-hydroxybutyric aciduria.- Clinical review.- Biochemical findings.- Enzymology and mode of inheritance.- Section V: Short Communications.- Preface to Short Communications.- Free Communications.- Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria.- Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient ?-oxidation in fibroblasts.- Glutaryl CoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II.- Medium chain acyl-CoA dehydrogenase deficiency: apparent Km and Vmax values for fibroblast acyl-CoA dehydrogenase towards octanoyl-CoA in patient and control cell lines.- Mitochondrial myopathy with partial cytochrome oxidase deficiency and impaired oxidation of NADH-linked substrates.- L-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria.- An evaluation of urine lactate for detection of inborn errors of metabolism.- Metabolic acidosis versus a compensation of respiratory alkalosis in four children with Leigh’s disease.- Chemical diagnosis of dihydrolipoyl dehydrogenase deficiency.- 3-Hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease.- Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.- Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin.- Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.- Organic acids in urine: sample preparation for GC/MS.- Experience with prenatal diagnosis of propionic acidaemia and methylmalonic aciduria.- Methylmalonic aciduria with homocystinuria.- Two cases of ß-ketothiolase deficiency: a comparison.- L-Glyceric aciduria (primary hyperoxaluria type 2) in siblings in two unrelated families.- The antenatal diagnosis and aid to the management of hereditary tyrosinaemia by use of a specific and sensitive GC—MS assay for succinylacetone.- The enzyme defects in hereditary tyrosinaemia type I.- The possibility for prenatal diagnosis of PKU by linkage analyses based on phenylalanine hydroxylase locus specific DNA-polymorphisms.- Complementation between argininosuccinate synthetase-deficient and argininosuccinate lyase-deficient fibroblasts depends on intercellular communication.- Molecular lesion of non-ketotic hyperglycinaemia.- Prolidase deficiency: detection of cases by a newborn urinary screening programme.- Type Ib glycogen storage disease: an in vivo and in vitro study of two cases.- The lactate concentration of the urine, a parameter for the adequacy of dietary treatment of patients with glucose-6-phosphatase deficiency.- Sorbitol dehydrogenase deficiency in a family with congenital cataracts.- Thiamin-responsive megaloblastic anaemia: a disorder of thiamin transport?.- Acid esterase deficiency: comparison of biochemical findings in infantile and adult forms.- Steroid sulphatase deficiency. Steroid sulphatase and arylsulphatase C determination in normal and affected fibroblasts.- Steroid sulphatase deficiency is present in patients with the syndrome’ ichthyosis and male hypogonadism’ and with’ Rud syndrome’.

Su questa edizione

• Editore: Springer
• Data di pubblicazione: 2012
• ISBN 10: 9401089752
• ISBN 13: 9789401089753
• Rilegatura: Copertina flessibile
• Numero di pagine: 172
• Redattore: Addison G. M.