Biomaterial Database

[Disorders of human pyrimidine metabolism (author's transl)]. 1975

W Gröbner, and N Zöllner

Pyrimidine synthesis and its regulation are presented. Among the disorders of human pyrimidine metabolism, hereditary orotic aciduria and that produced by drugs play the principal role. A rise in renal excretion of orotic acis is also observed when ornithine transcarbamylase activity is lacking. The importance of "orotic aciduria with partial response to folic acid" in pyrimidine metabolism is still not clear. Close relationship between the formation of pyrimidine and purine nucleotides must be assumed, because both enter into the synthesis of nucleic acid, for the greatest part in approximately equimolecular amounts. Possibly 5-phosphoribosyl-1-pyrophosphate plays an important part.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D009954	Ornithine Carbamoyltransferase	A urea cycle enzyme that catalyzes the formation of orthophosphate and L-citrulline (CITRULLINE) from CARBAMOYL PHOSPHATE and L-ornithine (ORNITHINE). Deficiency of this enzyme may be transmitted as an X-linked trait. EC 2.1.3.3.	Ornithine Transcarbamylase,Ornithine Carbamylphosphate Transferase,Carbamoyltransferase, Ornithine,Carbamylphosphate Transferase, Ornithine,Transcarbamylase, Ornithine,Transferase, Ornithine Carbamylphosphate
D009963	Orotic Acid	An intermediate product in PYRIMIDINE synthesis which plays a role in chemical conversions between DIHYDROFOLATE and TETRAHYDROFOLATE.	Potassium Orotate,Sodium Orotate,Zinc Orotate,Acid, Orotic,Orotate, Potassium,Orotate, Sodium,Orotate, Zinc
D010754	Phosphoribosyl Pyrophosphate	The key substance in the biosynthesis of histidine, tryptophan, and purine and pyrimidine nucleotides.	Pyrophosphate, Phosphoribosyl
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
D011687	Purines	A series of heterocyclic compounds that are variously substituted in nature and are known also as purine bases. They include ADENINE and GUANINE, constituents of nucleic acids, as well as many alkaloids such as CAFFEINE and THEOPHYLLINE. Uric acid is the metabolic end product of purine metabolism.
D011742	Pyrimidine Nucleotides	Pyrimidines with a RIBOSE and phosphate attached that can polymerize to form DNA and RNA.	Nucleotides, Pyrimidine
D011743	Pyrimidines	A family of 6-membered heterocyclic compounds occurring in nature in a wide variety of forms. They include several nucleic acid constituents (CYTOSINE; THYMINE; and URACIL) and form the basic structure of the barbiturates.
D002621	Chemistry	A basic science concerned with the composition, structure, and properties of matter; and the reactions that occur between substances and the associated energy exchange.