A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders

מצבים רפואיים

AMPD3, OMIM*102772, AMP Deaminase Deficiency · AK1, OMIM *103000, Adenylate Kinase Deficiency · AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency · TPMT, OMIM *187680, Thoipurines, Poor Metabolism of · IMPDH1, OMIM *146690, Retinitis Pigmentosa Type 10, Leber Congenital Amauriosis Type 11 · APRT, OMIM *102600, Adenine Phosphoribosyltransferase Deficiency · HPRT1, OMIM *308000 Lesch-Nyhan Disease · XDH, OMIM *607633, Xanthinuria Type 1 · SLC2A9, OMIM *606142 Hypouricemia · SLC22A12, OMIM *607096 Hypouricemia · PRPS1 Def, OMIM *311850, Arts Syndrome; Charcot-Marie-Tooth Disease · PRPS1 SA, OMIM *311850 Gout, PRPS-related Phosphoribosylpyrophosphate Synthetase Superactivity · AMPD2, OMIM *102771, Spastic Paraplegia 63; Pontocerebellar Hypoplasia · ITPA, OMIM *147520, Inosine Triphosphatase Deficiency; Developmental and Epileptic Encephalopathy 35 · ADSL, OMIM *608222, Adenylosuccinate Lyase Deficiency · PNP, OMIM *164050, Nucleoside Phosphorylase Deficiency · ADA2, OMIM *607575,Sneddon Syndrome; VAIHS · CAD, *1140120, Developmental and Epileptic Encephalopathy · UPB1, OMIM *606673, Beta-ureidopropionase Deficiency · DPYS, OMIM *613326, Dihydropyrimidinase Deficiency · DPYD, OMIM *274270, Dihydropyrimidine Dehydrogenase Deficiency · DHODH, OMIM *126064, Miller Syndrome (Postaxial Acrofacial Dysostosis) · UMPS, OMIM *613891, Orotic Aciduria · NT5C3A<TAB>, OMIM *606224, Anemia, Hemolytic, Due to UMPH1 Deficiency · UNG, OMIM *191525, Hyper-IgM Syndrome 5 · AICDA, OMIM *605257, Immunodeficiency With Hyper-IgM, Type 2; HIGM2 · Purine-Pyrimidine Metabolism · Metabolic Disease