Biomaterial Database

Cerebrospinal fluid cyclic nucleotide alterations in the Lesch-Nyhan syndrome. 1989

N L Edwards, and M V Johnston, and F S Silverstein

Department of Medicine, University of Florida, Gainesville.

UI	MeSH Term	Description	Entries
D007041	Hypoxanthine Phosphoribosyltransferase	An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or MERCAPTOPURINE to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8.	Guanine Phosphoribosyltransferase,HPRT,Hypoxanthine-Guanine Phosphoribosyltransferase,IMP Pyrophosphorylase,HGPRT,HPRTase,Hypoxanthine Guanine Phosphoribosyltransferase,Phosphoribosyltransferase, Guanine,Phosphoribosyltransferase, Hypoxanthine,Phosphoribosyltransferase, Hypoxanthine-Guanine,Pyrophosphorylase, IMP
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
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
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000242	Cyclic AMP	An adenine nucleotide containing one phosphate group which is esterified to both the 3'- and 5'-positions of the sugar moiety. It is a second messenger and a key intracellular regulator, functioning as a mediator of activity for a number of hormones, including epinephrine, glucagon, and ACTH.	Adenosine Cyclic 3',5'-Monophosphate,Adenosine Cyclic 3,5 Monophosphate,Adenosine Cyclic Monophosphate,Adenosine Cyclic-3',5'-Monophosphate,Cyclic AMP, (R)-Isomer,Cyclic AMP, Disodium Salt,Cyclic AMP, Monoammonium Salt,Cyclic AMP, Monopotassium Salt,Cyclic AMP, Monosodium Salt,Cyclic AMP, Sodium Salt,3',5'-Monophosphate, Adenosine Cyclic,AMP, Cyclic,Adenosine Cyclic 3',5' Monophosphate,Cyclic 3',5'-Monophosphate, Adenosine,Cyclic Monophosphate, Adenosine,Cyclic-3',5'-Monophosphate, Adenosine,Monophosphate, Adenosine Cyclic