Inherited Disorders of Vitamins and Cofactors (eBook, PDF)

Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle upon Tyne, September 1984
Redaktion: Addison, G. M.; Pollitt, R. J.; Harkness, R. Angus; Bartlett, K.

• Format: PDF

Produktbeschreibung

Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle Upon Tyne, September 1984

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Produktdetails

• Verlag: Springer Netherlands
• Seitenzahl: 154
• Erscheinungstermin: 6. Dezember 2012
• Englisch
• ISBN-13: 9789401180191
• Artikelnr.: 44182176

Inhaltsangabe

Section I: Physiological and therapeutic aspects.- Vitamins: an evolutionary perspective.- Normal vitamin requirements in neonates and infants.- Intestinal transport of vitamins.- Evaluation of cofactor responsiveness.- Section II: Biopterins.- Hyperphenylalaninaemia caused by defects in biopterin metabolism (Raine Memorial Lecture).- Biosynthesis of tetrahydrobiopterin in man.- Differential diagnosis of tetrahydrobiopterin deficiency.- Clinical role of pteridine therapy in tetrahydrobiopterin deficiency.- Section III: Biotin.- Enzyme studies in biotin-responsive disorders.- Biotinidase deficiency: a novel vitamin recycling defect.- Biotinidase deficiency: factors responsible for the increased biotin requirement.- Section IV: Riboflavin, thiamine, pyridoxine and vitamin E.- Riboflavin-responsive defects of ?-oxidation.- Thiamine-responsive inborn errors of metabolism.- Recent advances in the mechanism of pyriodoxine-responsive disorders.- Vitamin E and muscle diseases.- The role of vitamin E in the treatment of the neurological features of abetalipoproteinaemia and other disorders of fat absorption.- Section V: Short Communications.- Preface to Short Communications.- Free Communications.- Biopterin, neopterin and tyrosine responses to combined oral phenylalanine and tetrahydrobiopterin loading tests in two normal children and in a girl with partial biopterin deficiency.- Phenylketonuria due to dihydropteridine reductase deficiency: presentation of two cases.- Neonatal screening for dihydropteridine reductase deficiency.- A bioassay for determining biotinidase activity and for discriminating biocytin from biotin using holocarboxylase synthetase-deficient cultured fibroblasts.- Biotin-responsive 3-methylcrotonylglycinuria with biotinidase deficiency.- Organic aciduria inlate-onset biotin-responsive multiple carboxylase deficiency.- Successful nicotinamide treatment in an autosomal dominant behavioral and psychiatric disorder.- Folic acid responsive rages, seizures and homocystinuria.- The effect of phytol upon skeletal muscle damage in vitamin E-deficient animals.- Dihydropyrimidine dehydrogenase deficiency leading to thymine-uraciluria. An inborn error of pyrimidine metabolism.- Dihydropyrimidine dehydrogenase deficiency-a further case.- Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosis.- An abnormal amino acid pattern in adenosine deaminase deficiency.- Amino acidaemias and brain maturation: interference with sulphate activation and myelin metabolism.- Juvenile non-ketotic hyperglycinaemia in three siblings.- Amino acid loading tests in a patient with non-ketotic hyperglycinaemia.- Plasma selenium levels in treated Phenylketonuric patients.- Plasma lipid concentrations in 42 treated Phenylketonuric children.- Speech and language disorders in histidinaemia and other amino acid disturbances.- Early diagnosis and dietetic management in newborn with maple syrup urine disease. Birth to six weeks.- ?-Aminoadipic and ?-ketoadipic aciduria: detection of a new case by a screening program using two-dimensional thin layer chromatography of amino acids.- The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect.- Multiple acyl-CoA dehydrogenase deficiency: a neonatal onset case responsive to treatment.- Metabolic effects of carnitine medication in a patient with multiple acyl-CoA dehydrogenation deficiency.- L-Carnitine and glycine therapy in isovaleric acidaemia.- The identification of acylcarnitines by desorption chemicalionization mass spectrometry.- The prenatal diagnosis of glutaric aciduria type II using quantitative GC-MS.- 3-Methyladipate excretion in animals fed a phytol supplement with reference to Refsum's disease.- Difficulties in assessing biochemical properties of abnormal muscle mitochondria.- Peroxisomal matrix enzymes in Zellweger syndrome: activity and subcellular localization in liver.- Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis.