[Amino acids and trisomy 21]

Ann Genet. 1992;35(1):8-13.
[Article in French]

Abstract

The relative concentrations of plasmatic and urinary amino acids were analysed in 79 trisomic-21 patients, 322 mentally retarded non-trisomic patients, and 206 controls. No true amino acidopathy was found in 21-trisomy, but in plasma a deficit of serine and an excess of cysteine and lysine are highly significant. Excesses of cysteine, methionine, tyrosine, and methyl-histidine are also typical in urine. The increased activity of superoxide-dismutase, cystathionine-beta-synthase, and purine synthesis enzymes, together with the sensitivity to methotrexate, atropine, and dysthyroidism, are in accordance with this shift of equilibrium. A nutritional compensation seems worth investigating.

Publication types

  • English Abstract

MeSH terms

  • Amino Acids / blood
  • Amino Acids / metabolism*
  • Amino Acids / urine
  • Down Syndrome / enzymology
  • Down Syndrome / metabolism*
  • Humans

Substances

  • Amino Acids