[Hereditary xanthinuria and molybdenum cofactor deficiency]. 2003

Kimiyoshi Ichida
Division of Kidney and Hypertension, Jikei University School of Medicine.

UI MeSH Term Description Entries
D008667 Metalloproteins Proteins that have one or more tightly bound metal ions forming part of their structure. (Dorland, 28th ed) Metalloprotein
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D011621 Pteridines Compounds based on pyrazino[2,3-d]pyrimidine which is a pyrimidine fused to a pyrazine, containing four NITROGEN atoms. 1,3,5,8-Tetraazanaphthalene,Pteridine,Pteridinone,Pyrazino(2,3-d)pyrimidine,Pyrazinopyrimidine,Pyrazinopyrimidines,Pyrimido(4,5-b)pyrazine,Pteridinones
D011686 Purine-Pyrimidine Metabolism, Inborn Errors Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero. Purine Pyrimidine Metabolism, Inborn Errors
D003067 Coenzymes Small molecules that are required for the catalytic function of ENZYMES. Many VITAMINS are coenzymes. Coenzyme,Enzyme Cofactor,Cofactors, Enzyme,Enzyme Cofactors,Cofactor, Enzyme
D005808 Genes, Recessive Genes that influence the PHENOTYPE only in the homozygous state. Conditions, Recessive Genetic,Genetic Conditions, Recessive,Recessive Genetic Conditions,Condition, Recessive Genetic,Gene, Recessive,Genetic Condition, Recessive,Recessive Gene,Recessive Genes,Recessive Genetic Condition
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000090006 Molybdenum Cofactors Enzyme co-factors that contain MOLYBDENUM. They play an essential role in a variety of cellular REDOX reactions. Molybdenum-Containing Cofactors,Pterin-based Molybdenum Cofactor,Pterin-based Molybdenum Cofactors,Cofactor, Pterin-based Molybdenum,Cofactors, Molybdenum,Cofactors, Molybdenum-Containing,Cofactors, Pterin-based Molybdenum,Molybdenum Cofactor, Pterin-based,Molybdenum Cofactors, Pterin-based,Molybdenum Containing Cofactors,Pterin based Molybdenum Cofactor,Pterin based Molybdenum Cofactors
D014527 Uric Acid An oxidation product, via XANTHINE OXIDASE, of oxypurines such as XANTHINE and HYPOXANTHINE. It is the final oxidation product of purine catabolism in humans and primates, whereas in most other mammals URATE OXIDASE further oxidizes it to ALLANTOIN. 2,6,8-Trihydroxypurine,Ammonium Acid Urate,Monosodium Urate,Monosodium Urate Monohydrate,Potassium Urate,Sodium Acid Urate,Sodium Acid Urate Monohydrate,Sodium Urate,Sodium Urate Monohydrate,Trioxopurine,Urate,Acid Urate, Ammonium,Acid Urate, Sodium,Acid, Uric,Monohydrate, Monosodium Urate,Monohydrate, Sodium Urate,Urate Monohydrate, Monosodium,Urate Monohydrate, Sodium,Urate, Ammonium Acid,Urate, Monosodium,Urate, Potassium,Urate, Sodium,Urate, Sodium Acid
D014968 Xanthine Dehydrogenase An enzyme that catalyzes the oxidation of XANTHINE in the presence of NAD+ to form URIC ACID and NADH. It acts also on a variety of other purines and aldehydes. Purine Hydroxylase I,Xanthine Oxidoreductase,Dehydrogenase, Xanthine,Oxidoreductase, Xanthine

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