Inherited Disorders of Vitamins and Cofactors: Proceedings of the 22nd Annual Symposium of the Ssiem, Newcastle Upon Tyne, September 1984

ISBN-13: 9789401180214 / Angielski / Miękka / 2012 / 154 str.

G. M. Addison; K. Bartlett; R. Angus Harkness

Opis

together with short communications from members to In 1972 the 10th Annual Symposium of the Society for the provide a valuable overview of the current status of this Study ofInborn Errors of Metabolism was held in Cardiff field. The difficulty in establishing an uneq uivocal clinical and the proceedings published in 1973. The meeting was devoted to the treatment of inborn errors of metabolism; response to vitamin treatment was discussed by Dr in particular the dietary treatment of phenylketonuria Leonard. The papers on biotin-responsive combined and vitamin responsive disorders were reviewed. These carboxylase deficiency presented by Drs Bartlett, Wolf two areas have seen notable advances in the intervening and Baumgartner emphasized the widely differing years. It has become apparent that a number of variants of mechanisms which may underline apparently similar PKU are due to defective cofactor metabolism, and, clinical responses. In particular biotinidase deficiency appears to be a unique defect of cofactor recycling. indeed, some patients refractory to simple dietary restriction of phenylalanine respond to the adminis Riboflavin, thiamine, and pyridoxine responsive disor tration of the phenylalanine hydroxylase cofactor ders were succinctly reviewed by Drs Gregersen, Duran and Fowler, again interspersed with relevant short biopterin or related compounds. Biopterin, normally communications from members. Two papers by Drs synthesized de 110W, in some individuals has become a .vitamin'.

Spis treści

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 in late-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 chemical ionization 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.