Biomaterial Database

HGPRT in the Gilles de la Tourette syndrome. 1977

G G Johnson, and J M Pepple, and H S Singer, and J W Littlefield

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
D008297	Male		Males
D005879	Tourette Syndrome	A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)	Gilles de la Tourette Disorder,Gilles de la Tourette's Disease,Tic Disorder, Combined Vocal and Multiple Motor,Chronic Motor and Vocal Tic Disorder,Combined Multiple Motor and Vocal Tic Disorder,Combined Vocal and Multiple Motor Tic Disorder,Gilles De La Tourette's Syndrome,Gilles de la Tourette Syndrome,Multiple Motor and Vocal Tic Disorder, Combined,Tourette Disease,Tourette Disorder,Tourette's Disease,Tourette's Disorder,Tourette's Syndrome,Syndrome, Tourette,Tourettes Disease,Tourettes Disorder,Tourettes Syndrome
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012737	Sex Factors	Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.	Factor, Sex,Factors, Sex,Sex Factor