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

Adenosine deaminase deficiency, an abnormal amino acid pattern in 119 Amino acidaemias and brain maturation: interference with sulphate activation and myelin metabolism 121 -:x-Aminoadipic and -:x-ketoadipic aciduria: detection of a new case by a screening programme using two-dimensional thin layer chromatography of amino acids 133 Front Matter....Pages i-1 Vitamins: An Evolutionary Perspective....Pages 2-7 Normal Vitamin Requirements in Neonates and Infants....Pages 8-12 Intestinal Transport of Vitamins....Pages 13-16 Evaluation of Cofactor Responsiveness....Pages 17-19 Biosynthesis of Tetrahydrobiopterin in Man....Pages 28-33 Differential Diagnosis of Tetrahydrobiopterin Deficiency....Pages 34-38 Clinical Role of Pteridine Therapy in Tetrahydrobiopterin Deficiency....Pages 39-45 Hyperphenylalaninaemia Caused by Defects in Biopterin Metabolism....Pages 20-27 Enzyme Studies in Biotin-responsive Disorders....Pages 46-52 Biotinidase Deficiency: A Novel Vitamin Recycling Defect....Pages 53-58 Biotinidase Deficiency: Factors Responsible for the Increased Biotin Requirement....Pages 59-64 Riboflavin-responsive Defects of β-Oxidation....Pages 65-69 Thiamine-responsive Inborn Errors of Metabolism....Pages 70-75 Recent Advances in the Mechanism of Pyridoxine-responsive Disorders....Pages 76-83 Vitamin E and Muscle Diseases....Pages 84-87 The Role of Vitamin E in the Treatment of the Neurological Features of Abetalipoproteinaemia and Other Disorders of Fat Absorption....Pages 88-92 Preface to Short Communications....Pages 93-93 Free communications....Pages 93-94 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....Pages 95-96 Phenylketonuria due to Dihydropteridine Reductase Deficiency: Presentation of Two Cases....Pages 97-98 Neonatal Screening for Dihydropteridine Reductase Deficiency....Pages 99-100 A Bioassay for Determining Biotinidase Activity and for Discriminating Biocytin from Biotin using Holocarboxylase Synthetase-deficient Cultured Fibroblasts....Pages 101-102 Biotin-responsive 3-Methylcrotonylglycinuria with Biotinidase Deficiency....Pages 103-104 Organic Aciduria in Late-onset Biotin-responsive Multiple Carboxylase Deficiency....Pages 105-106 Successful Nicotinamide Treatment in an Autosomal Dominant Behavioral and Psychiatric Disorder....Pages 107-108 Folic Acid Responsive Rages, Seizures and Homocystinuria....Pages 109-110 The Effect of Phytol upon Skeletal Muscle Damage in Vitamin E-Deficient Animals....Pages 111-112 Dihydropyrimidine Dehydrogenase Deficiency Leading to Thymine-uraciluria. An Inborn Error of Pyrimidine Metabolism....Pages 113-114 Dihydropyrimidine Dehydrogenase Deficiency — A Further Case....Pages 115-116 Combined Deficiency of Xanthine Oxidase and Sulphite Oxidase: Diagnosis of a New Case Followed by an Antenatal Diagnosis....Pages 117-118 An Abnormal Amino Acid Pattern in Adenosine Deaminase Deficiency....Pages 119-119 Amino Acidaemias and Brain Maturation: Interference with Sulphate Activation and Myelin Metabolism....Pages 121-122 Juvenile Non-ketotic Hyperglycinaemia in Three Siblings....Pages 123-124 Amino Acid Loading Tests in a Patient with Non-ketotic Hyperglycinaemia....Pages 125-126 Plasma Selenium Levels in Treated Phenylketonuric Patients....Pages 127-128 Plasma Lipid Concentrations in 42 Treated Phenylketonuric Children....Pages 129-129 Speech and Language Disorders in Histidinaemia and other Amino Acid Disturbances....Pages 130-130 Early Diagnosis and Dietetic Management in Newborn with Maple Syrup Urine Disease. Birth to Six Weeks....Pages 131-132 α-Aminoadipic and α-Ketoadipic Aciduria: Detection of a New Case by a Screening Program using Two-dimensional Thin Layer Chromatography of Amino Acids....Pages 133-134 The Diagnosis and Biochemical Investigation of a Patient with a Short Chain Fatty Acid Oxidation Defect....Pages 135-136 Multiple Acyl-CoA Dehydrogenase Deficiency: A Neonatal Onset Case Responsive to Treatment....Pages 137-138 Metabolic Effects of Carnitine Medication in a Patient with Multiple Acyl-CoA Dehydrogenation Deficiency....Pages 139-140 L-Carnitine and Glycine Therapy in Isovaleric Acidaemia....Pages 141-142 The Identification of Acylcarnitines by Desorption Chemical Ionization Mass Spectrometry....Pages 143-144 The Prenatal Diagnosis of Glutaric Aciduria Type II, using Quantitative GC-MS....Pages 145-146 3-Methyladipate Excretion in Animals Fed a Phytol Supplement with Reference to Refsum’s Disease....Pages 147-148 Difficulties in Assessing Biochemical Properties of Abnormal Muscle Mitochondria....Pages 149-150 Peroxisomal Matrix Enzymes in Zellweger Syndrome: Activity and Subcellular Localization in Liver....Pages 151-152 Prenatal Diagnosis of the Cerebro-hepato-renal (Zellweger) Syndrome by Detection of an Impaired Plasmalogen Biosynthesis....Pages 153-154 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'