Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome

D. K. Rassin, K. G. Lloyd, W. N. Kelley, I. Fox

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

In an effort to further understand the pathogenesis of Lesch- Nyhan syndrome, an X-linked recessive disease of purine metabolism associated with a deficiency of hypoxanthine-guanine phosphoribosyltransferase, we have analyzed the amino acids in autopsy brain material obtained from five patients and six controls. The amino acids glycine and glutamine serve as substrates for the synthesis of purines in man. Amino acids were measured in the occipital cortex, limbic cortical area, cerebellar cortex, hippocampus and putamen. In general the amino acids were usually lower in concentration in brain material from affected individuals. Most dramatically decreased were threonine, serine, valine, isoleucine, lysine and arginine. Only glutamine and urea were higher than controls. Glutamate, gamma- aminobutyrate and cystathionine were essentially unaffected. The data reported here do not support a role for increased glycine in the pathogenesis of this disease as implied by findings previously reported in cultured cell lines (Skaper and Seegmiller 1976, 1977). The current findings suggest that individuals with Lesch-Nyhan syndrome have a generally lower concentration of free amino acids in brain. This decrease may be involved in the etiology of the disease or the decrease may be a result of the generally malnourished state of these individuals. These results imply that affected patients have a limited supply of amino acid precursors available for the synthesis of either proteins or neurotransmitters that the brain requires for normal function. Thus, the low amino acid pools could be an important factor in the brain dysfunction observed in patients with Lesch-Nyhan syndrome.

Original languageEnglish (US)
Pages (from-to)130-134
Number of pages5
JournalNeuropediatrics
Volume13
Issue number3
StatePublished - 1982
Externally publishedYes

Fingerprint

Lesch-Nyhan Syndrome
Amino Acids
Brain
Glutamine
Glycine
Cystathionine
Aminobutyrates
Occipital Lobe
Purines
Cerebellar Cortex
Isoleucine
Putamen
Valine
Threonine
Serine
Lysine
Neurotransmitter Agents
Arginine
Urea
Glutamic Acid

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Rassin, D. K., Lloyd, K. G., Kelley, W. N., & Fox, I. (1982). Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome. Neuropediatrics, 13(3), 130-134.

Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome. / Rassin, D. K.; Lloyd, K. G.; Kelley, W. N.; Fox, I.

In: Neuropediatrics, Vol. 13, No. 3, 1982, p. 130-134.

Research output: Contribution to journalArticle

Rassin, DK, Lloyd, KG, Kelley, WN & Fox, I 1982, 'Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome', Neuropediatrics, vol. 13, no. 3, pp. 130-134.
Rassin, D. K. ; Lloyd, K. G. ; Kelley, W. N. ; Fox, I. / Decreased amino acids in various brain areas of patients with Lesch-Nyhan syndrome. In: Neuropediatrics. 1982 ; Vol. 13, No. 3. pp. 130-134.
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