formic acid has been researched along with Lesch-Nyhan Syndrome in 1 studies
formic acid: RN given refers to parent cpd
formic acid : The simplest carboxylic acid, containing a single carbon. Occurs naturally in various sources including the venom of bee and ant stings, and is a useful organic synthetic reagent. Principally used as a preservative and antibacterial agent in livestock feed. Induces severe metabolic acidosis and ocular injury in human subjects.
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)
Excerpt | Relevance | Reference |
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"A rat neuroma cell line (B103 4C), deficient of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), was utilized as a model tissue in search for the biochemical basis of the Lesch-Nyhan syndrome (LNS)." | 7.68 | Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line. ( Bromberg, Y; Brosh, S; Sidi, Y; Sperling, O; Zoref-Shani, E, 1993) |
"A rat neuroma cell line (B103 4C), deficient of hypoxanthine-guanine phosphoribosyltransferase (HGPRT), was utilized as a model tissue in search for the biochemical basis of the Lesch-Nyhan syndrome (LNS)." | 3.68 | Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line. ( Bromberg, Y; Brosh, S; Sidi, Y; Sperling, O; Zoref-Shani, E, 1993) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (100.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Zoref-Shani, E | 1 |
Bromberg, Y | 1 |
Brosh, S | 1 |
Sidi, Y | 1 |
Sperling, O | 1 |
1 other study available for formic acid and Lesch-Nyhan Syndrome
Article | Year |
---|---|
Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line.
Topics: Adenine; Adenine Nucleotides; Animals; Formates; Guanine; Hypoxanthine; Hypoxanthine Phosphoribosylt | 1993 |