Inherited Disorders of Vitamins and Cofactors: Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle upon Tyne, September 1984 [Paperback]

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 andl“)