[Cri-du-chat disease: plasma and urinary amino acids].
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.
Lejeune
J
J
Chaire de Génétique Fondamentale, Hôpital des Enfants Malades, Paris, France.
Rethoré
M O
MO
Peeters
M
M
de Blois
M C
MC
Rabier
D
D
Parvy
P
P
Bardet
J
J
Kamoun
P
P
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism*; D000596:Amino Acids / Q000378:metabolism*; D001216:Asparagine / Q000378:metabolism*; D001224:Aspartic Acid / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000378:metabolism; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000648:ultrastructure; D003410:Cri-du-Chat Syndrome / Q000235:genetics / Q000378:metabolism*; D005260:Female; D006639:Histidine / Q000652:urine; D006801:Humans; D008607:Intellectual Disability / Q000378:metabolism; D008297:Male; D008954:Models, Biological; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism
D000596:Amino Acids; D001224:Aspartic Acid; D006639:Histidine; D001216:Asparagine
Maladie du cri du chat: acides aminés plasmatiques et urinaires.