Biomaterial Database

Double-blind clinical trial of 5-hydroxytryptophan in a case of Lesch-Nyhan syndrome. 1976

C D Frith, and E C Johnston, and M H Joseph, and R J Powell, and R W Watts

5-Hydroxytryptophan (5-HTP) treatment of a single case of Lesch-Nyhan syndrome showing compulsive self-mutilation, athetoid movements, and characteristic clinical biochemical picture was studied on a double-blind basis. 5-HTP or placebo was administered for seven fortnightly treatment blocks. 5-HTP produced a significant reduction of athetoid movement and a sedative effect but did not improve the patient's mood or reduce self-mutilation.

UI	MeSH Term	Description	Entries
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
D008297	Male		Males
D009043	Motor Activity	Body movements of a human or an animal as a behavioral phenomenon.	Activities, Motor,Activity, Motor,Motor Activities
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D002986	Clinical Trials as Topic	Works about pre-planned studies of the safety, efficacy, or optimum dosage schedule (if appropriate) of one or more diagnostic, therapeutic, or prophylactic drugs, devices, or techniques selected according to predetermined criteria of eligibility and observed for predefined evidence of favorable and unfavorable effects. This concept includes clinical trials conducted both in the U.S. and in other countries.	Clinical Trial as Topic
D004341	Drug Evaluation	Any process by which toxicity, metabolism, absorption, elimination, preferred route of administration, safe dosage range, etc., for a drug or group of drugs is determined through clinical assessment in humans or veterinary animals.	Evaluation Studies, Drug,Drug Evaluation Studies,Drug Evaluation Study,Drug Evaluations,Evaluation Study, Drug,Evaluation, Drug,Evaluations, Drug,Studies, Drug Evaluation,Study, Drug Evaluation
D004644	Emotions	Those affective states which can be experienced and have arousing and motivational properties.	Feelings,Regret,Emotion,Feeling,Regrets
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006916	5-Hydroxytryptophan	The immediate precursor in the biosynthesis of SEROTONIN from tryptophan. It is used as an antiepileptic and antidepressant.	5-HTP,Hydroxytryptophan,Oxitriptan,Oxytryptophan,Tryptophan, 5-Hydroxy-,5 Hydroxytryptophan,5-Hydroxy- Tryptophan,Tryptophan, 5 Hydroxy
D012652	Self Mutilation	The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body.	Autotomy Human,Self Mutilating Behavior,Autotomy Humans,Behavior, Self Mutilating,Mutilating Behavior, Self,Mutilation, Self,Self Mutilating Behaviors