Scientists launch major study to unravel mysterious metabolism disorders

ADA2 protein, human adenine phosphoribosyltransferase deficiency adenosine monophosphate deaminase deficiency adenylosuccinate lyase deficiency anemia Arts syndrome beta-ureidopropionase deficiency Charcot-Marie-Tooth disease deficiency of adenosine deaminase 2 developmental and epileptic encephalopathy developmental and epileptic encephalopathy 114 developmental and epileptic encephalopathy, 35 Dihydropyrimidinase Deficiency dihydropyrimidine dehydrogenase deficiency dihydropyrimidinuria Hemolysis hemolytic anemia due to adenylate kinase deficiency hemolytic anemia due to pyrimidine 5' nucleotidase deficiency hereditary renal hypouricemia hereditary spastic paraplegia 63 hyper-IgM syndrome hyper-IgM syndrome type 2 hyper-IgM syndrome type 5 hypouricemia, renal 1 inborn disorder of purine or pyrimidine metabolism inosine triphosphatase deficiency Lesch-Nyhan syndrome metabolic disease myopathy due to myoadenylate deaminase deficiency orotic aciduria Oroticaciduria 1 phosphoribosylpyrophosphate synthetase superactivity pontocerebellar hypoplasia postaxial acrofacial dysostosis PRPS1 deficiency disorder purine nucleoside phosphorylase deficiency Sneddon syndrome thiopurine S-methyltransferase deficiency xanthinuria type I