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