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gamma-aminobutyric acid and Lesch-Nyhan Syndrome

gamma-aminobutyric acid has been researched along with Lesch-Nyhan Syndrome in 6 studies

gamma-Aminobutyric Acid: The most common inhibitory neurotransmitter in the central nervous system.
gamma-aminobutyric acid : A gamma-amino acid that is butanoic acid with the amino substituent located at C-4.

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)

Research Excerpts

ExcerptRelevanceReference
"Different brain regions were removed post mortem from three patients with the Lesch-Nyhan syndrome and were examined for alterations in hypoxanthine-guanine phosphoribosyl transferase (HGPRT), adenine phosphoribosyl transferase, and biochemical indexes of norepinephrine, dopamine, serotonin, gamma-aminobutyric acid (GABA), and acetylcholine neuron function, as compared with age-matched controls."3.66Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. ( Davidson, L; Farley, I; Fox, IH; Goldstein, M; Hornykiewicz, O; Kelley, WN; Lloyd, KG; Shannak, K; Shibuya, M, 1981)

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19904 (66.67)18.7374
1990's2 (33.33)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Lloyd, KG1
Hornykiewicz, O2
Davidson, L1
Shannak, K1
Farley, I1
Goldstein, M1
Shibuya, M1
Kelley, WN1
Fox, IH2
McManaman, J1
Tam, DA1
Gedye, A1
Harkness, RA1
Kish, SJ1
Kapur, BM1
Lloyd, K1
Baumeister, AA1
Frye, GD1

Reviews

1 review available for gamma-aminobutyric acid and Lesch-Nyhan Syndrome

ArticleYear
The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome.
    Neuroscience and biobehavioral reviews, 1985,Summer, Volume: 9, Issue:2

    Topics: Adenine Nucleotides; Animals; Central Nervous System; Child; Child, Preschool; Clonidine; Corpus Str

1985

Other Studies

5 other studies available for gamma-aminobutyric acid and Lesch-Nyhan Syndrome

ArticleYear
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.
    The New England journal of medicine, 1981, Nov-05, Volume: 305, Issue:19

    Topics: Acetylcholine; Adenine Phosphoribosyltransferase; Adolescent; Adult; Brain; Child; Child, Preschool;

1981
Gabapentin for self-injurious behavior in Lesch-Nyhan syndrome.
    Pediatric neurology, 1999, Volume: 20, Issue:5

    Topics: Acetates; Amines; Child, Preschool; Cyclohexanecarboxylic Acids; GABA Agonists; Gabapentin; gamma-Am

1999
Serotonin-GABA treatment is hypothesized for self-injury in Lesch-Nyhan syndrome.
    Medical hypotheses, 1992, Volume: 38, Issue:4

    Topics: Baclofen; Drug Therapy, Combination; gamma-Aminobutyric Acid; Humans; Kynurenine; Lesch-Nyhan Syndro

1992
Lesch-Nyhan syndrome: reduced amino acid concentrations in CSF and brain.
    Advances in experimental medicine and biology, 1989, Volume: 253A

    Topics: Amino Acids; Brain; Cystathionine; gamma-Aminobutyric Acid; Humans; Hypoxanthine Phosphoribosyltrans

1989
Brain benzodiazepine receptor binding and purine concentration in Lesch-Nyhan syndrome.
    Brain research, 1985, Jun-10, Volume: 336, Issue:1

    Topics: Adolescent; Adult; Cerebral Cortex; gamma-Aminobutyric Acid; Humans; Hypoxanthine; Hypoxanthines; In

1985