METABOLIC ANOMALIES IN DOWN-SYNDROME - AN ALYSIS ON LYMPHOCYTE-CULTURES

Using a method of analysis which consists in the evaluation of the mit otic index of lymphocyte cultures to which different metabolites and a nti-metabolites have been added, we studied various forms of mental re tardation due to a chromosomal aberration and observed specific bioche mical imbalances. Methotrexate sensitivity is characteristic of trisom y 21. A significant difference in purine synthesis pathway was observe d between patients with Down syndrome without complications and those presenting with additional psychotic features. Inspite of a gene dosag e effect for genes intervening in purine synthesis, lymphocytes from p sychotic trisomy 21 patients seem unable to complete inosine synthesis . Lymphocytes from patients with Alzheimer's disease with or without t risomy 21 are excessively sensitive to exogenous glutamine.