Literature DB >> 1535189

[Amino acids and trisomy 21].

J Lejeune1, M O Rethoré, M C de Blois, M Peeters, J Naffah, A Megarbane, F Cattaneo, C Mircher, D Rabier, P Parvy.   

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.

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Year:  1992        PMID: 1535189

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  8 in total

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Review 6.  Meta-analysis of metabolites involved in bioenergetic pathways reveals a pseudohypoxic state in Down syndrome.

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7.  Effect of leucovorin (folinic acid) on the developmental quotient of children with Down's syndrome (trisomy 21) and influence of thyroid status.

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