Biomaterial Database

Purine nucleotide synthesis in lymphoblasts cultured from normal subjects and a patient with Lesch-Nyhan syndrome. 1973

A W Wood, and M A Becker, and J E Seegmiller

UI	MeSH Term	Description	Entries
D007042	Hypoxanthines	Purine bases related to hypoxanthine, an intermediate product of uric acid synthesis and a breakdown product of adenine catabolism.
D007700	Kinetics	The rate dynamics in chemical or physical systems.
D007926	Lesch-Nyhan Syndrome	An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127)	Choreoathetosis Self-Mutilation Hyperuricemia Syndrome,Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease,Choreoathetosis Self-Mutilation Syndrome,Complete HGPRT Deficiency Disease,Complete HPRT Deficiency,Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency,Deficiency Disease, Complete HGPRT,Deficiency Disease, Hypoxanthine-Phosphoribosyl-Transferase,Deficiency of Guanine Phosphoribosyltransferase,Deficiency of Hypoxanthine Phosphoribosyltransferase,HGPRT Deficiency,HGPRT Deficiency Disease, Complete,Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency,Hypoxanthine Guanine Phosphoribosyltransferase Deficiency,Hypoxanthine Phosphoribosyltransferase Deficiency,Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome,Juvenile Hyperuricemia Syndrome,Lesch-Nyhan Disease,Primary Hyperuricemia Syndrome,Total HPRT Deficiency,Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency,X-Linked Hyperuricemia,X-Linked Primary Hyperuricemia,Choreoathetosis Self Mutilation Hyperuricemia Syndrome,Choreoathetosis Self Mutilation Syndrome,Choreoathetosis Self-Mutilation Syndromes,Complete HPRT Deficiencies,Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency,Deficiencies, Complete HPRT,Deficiencies, HGPRT,Deficiencies, Hypoxanthine Phosphoribosyltransferase,Deficiencies, Total HPRT,Deficiency Disease, Hypoxanthine Phosphoribosyl Transferase,Deficiency Diseases, Hypoxanthine-Phosphoribosyl-Transferase,Deficiency, Complete HPRT,Deficiency, HGPRT,Deficiency, Hypoxanthine Phosphoribosyltransferase,Deficiency, Total HPRT,Guanine Phosphoribosyltransferase Deficiencies,Guanine Phosphoribosyltransferase Deficiency,HGPRT Deficiencies,HPRT Deficiencies, Complete,HPRT Deficiencies, Total,HPRT Deficiency, Complete,HPRT Deficiency, Total,Hyperuricemia Syndrome, Juvenile,Hyperuricemia Syndrome, Primary,Hyperuricemia Syndromes, Juvenile,Hyperuricemia Syndromes, Primary,Hyperuricemia, X-Linked,Hyperuricemia, X-Linked Primary,Hyperuricemias, X-Linked,Hyperuricemias, X-Linked Primary,Hypoxanthine Phosphoribosyl Transferase Deficiency Disease,Hypoxanthine Phosphoribosyltransferase Deficiencies,Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases,Juvenile Hyperuricemia Syndromes,Lesch Nyhan Disease,Lesch Nyhan Syndrome,Phosphoribosyltransferase Deficiencies, Guanine,Phosphoribosyltransferase Deficiencies, Hypoxanthine,Phosphoribosyltransferase Deficiency, Guanine,Phosphoribosyltransferase Deficiency, Hypoxanthine,Primary Hyperuricemia Syndromes,Primary Hyperuricemia, X-Linked,Primary Hyperuricemias, X-Linked,Self-Mutilation Syndrome, Choreoathetosis,Self-Mutilation Syndromes, Choreoathetosis,Syndrome, Choreoathetosis Self-Mutilation,Syndrome, Juvenile Hyperuricemia,Syndrome, Primary Hyperuricemia,Syndromes, Choreoathetosis Self-Mutilation,Syndromes, Juvenile Hyperuricemia,Syndromes, Primary Hyperuricemia,Total HPRT Deficiencies,Total Hypoxanthine Guanine Phosphoribosyl Transferase Deficiency,X Linked Hyperuricemia,X Linked Primary Hyperuricemia,X-Linked Hyperuricemias,X-Linked Primary Hyperuricemias
D008214	Lymphocytes	White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.	Lymphoid Cells,Cell, Lymphoid,Cells, Lymphoid,Lymphocyte,Lymphoid Cell
D009711	Nucleotides	The monomeric units from which DNA or RNA polymers are constructed. They consist of a purine or pyrimidine base, a pentose sugar, and a phosphate group. (From King & Stansfield, A Dictionary of Genetics, 4th ed)	Nucleotide
D010428	Pentosephosphates
D010756	Phosphoric Acids	Inorganic derivatives of phosphoric acid (H3PO4). Note that organic derivatives of phosphoric acids are listed under ORGANOPHOSPHATES.	Pyrophosphoric Acids,Acids, Phosphoric,Acids, Pyrophosphoric
D010770	Phosphotransferases	A rather large group of enzymes comprising not only those transferring phosphate but also diphosphate, nucleotidyl residues, and others. These have also been subdivided according to the acceptor group. (From Enzyme Nomenclature, 1992) EC 2.7.	Kinases,Phosphotransferase,Phosphotransferases, ATP,Transphosphorylase,Transphosphorylases,Kinase,ATP Phosphotransferases
D011685	Purine Nucleotides	Purines attached to a RIBOSE and a phosphate that can polymerize to form DNA and RNA.	Nucleotides, Purine
D002247	Carbon Isotopes	Stable carbon atoms that have the same atomic number as the element carbon but differ in atomic weight. C-13 is a stable carbon isotope.	Carbon Isotope,Isotope, Carbon,Isotopes, Carbon