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)
| Other Authors: | , , , |
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| Format: | eBook |
| Language: | English |
| Published: |
Dordrecht
Springer Netherlands
1984, 1984
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| Edition: | 1st ed. 1984 |
| Subjects: | |
| Online Access: | |
| Collection: | Springer Book Archives -2004 - Collection details see MPG.ReNa |
Table of Contents:
- 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 enzymedefects 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
- 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
- GlutarylCoA 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
- Steroid sulphatase deficiency is present in patients with the syndrome’ ichthyosis and male hypogonadism’ and with’ Rud syndrome’