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[Cri-du-chat disease: plasma and urinary amino acids]
J Lejeune1, M O Rethoré, M Peeters
1Chaire de Génétique Fondamentale, Hôpital des Enfants Malades, Paris, France.
Annales De Genetique
|January 1, 1990
Abstract:
Ten cases of cri du chat disease due to a del(5)(p14p15) were observed. A highly significant excess of the plasmatic and urinary relative amount of asparagine + aspartate was detected. A highly significant excess of the relative amount of histidine was also noted in the urine but not in the plasma. Excess of asparagine + aspartate could be related to a disorder of purine metabolism. The urinary excess of histidine could be related to a disorder of the aminoacid catabolism.