title: [Amino acids and trisomy 21].
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.
authors.affiliation: Chaire de Génétique Fondamentale, Hôpital des Enfants Malades, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Lejeune
authors.forename: M O
authors.initials: MO
authors.lastname: Rethoré
authors.forename: M C
authors.initials: MC
authors.lastname: de Blois
authors.forename: M
authors.initials: M
authors.lastname: Peeters
authors.forename: J
authors.initials: J
authors.lastname: Naffah
authors.forename: A
authors.initials: A
authors.lastname: Megarbane
authors.forename: F
authors.initials: F
authors.lastname: Cattaneo
authors.forename: C
authors.initials: C
authors.lastname: Mircher
authors.forename: D
authors.initials: D
authors.lastname: Rabier
authors.forename: P
authors.initials: P
authors.lastname: Parvy
mesh_terms: D000596:Amino Acids / Q000097:blood / Q000378:metabolism* / Q000652:urine; D004314:Down Syndrome / Q000201:enzymology / Q000378:metabolism*; D006801:Humans
chemical_list: D000596:Amino Acids
vernacular_title: Acides aminés et trisomie 21.