Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P00492 (hypoxanthine-guanine phosphoribosyltransferase)
 2,385 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The effects of 5-hydroxytryptophan (5-HTP), a serotonin precursor, and carbidopa, a peripheral aromatic amino acid decarboxylase inhibitor, were studied in a boy with the Lesch-Nyhan syndrome. No effects on the self-mutilating behaviors of this disorder were noted. However, sleep patterns were normalized, with a reduction in the proportionate amounts of wakefulness and an augmentation of active sleep. A sharp reduction in waking behavioral dyskinesias was also correlated to increased drug dosage.
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PMID:Further observations on the use of 5-hydroxytryptophan in a child with Lesch-Nyhan syndrome. 30 21

In a patient with the Lesch-Nyhan syndrome we found decreased spinal fluid 5-hydroxyindole acetic acid (5-HIAA), the major metabolite of serotonin, and decreased homovanillic acid (HVA), the major metabolite of dopamine, indicating a decrease in monoamine metabolism. Administration of 5-hydroxytryptophan and carbidopa produced an increase in spinal fluid 5-HIAA, indicating that it might be possible to correct the serotonin deficiency in this syndrome, but there were no changes in the marked mental retardation and neurological deficits. Self-mutilation appeared to be suppressed by therapy but the effectiveness of the drugs decreased with time. There were also changes in the spinal fluid concentration of amino acids that might affect brain protein synthesis. These changes were corrected during administration of 5-hydroxytryptophan and carbidopa.
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PMID:Effects of L-5-hydroxytryptophan on monoamine and amino acids turnover in the Lesch-Nyhan syndrome. 31 82

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.
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PMID:Double-blind clinical trial of 5-hydroxytryptophan in a case of Lesch-Nyhan syndrome. 79 98

The effects of 5-hydroxytryptophan (5-HTP), a serotonin precursor, were studied in a boy with the Lesch-Nyhan syndrome. During the course of drug treatment, self-mutilation, crying, sleep state architecture, serum dopamine B-hydroxylase (DBH), and cerebrospinal fluid levels of 5-hydroxyindolylacetic acid and homovanillic acid were studied. Treatment with 5-HTP failed to affect this child's biting behavior. However, the drug significantly reduced irritability as measured by crying time. Moreover, 5-HTP may have affected sleep state architecture, making it more normal in character. Serum DBH levels were normal throughout the study. Neither the patient's mother nor his maternal grandmother showed a hypertensive response on the cold pressor test.
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PMID:The use of 5-hydroxytryptophan in a child with Lesch-Nyhan syndrome. 108 61