[猫叫综合征：血浆和尿氨基酸]
[Cri-du-chat disease: plasma and urinary amino acids].
作者信息
Lejeune J, Rethoré M O, Peeters M, de Blois M C, Rabier D, Parvy P, Bardet J, Kamoun P
机构信息
Chaire de Génétique Fondamentale, Hôpital des Enfants Malades, Paris, France.
出版信息
Ann Genet. 1990;33(1):16-20.
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.
观察到10例因5号染色体短臂14区至15区缺失（del(5)(p14p15)）导致的猫叫综合征病例。检测到血浆和尿液中天冬酰胺+天冬氨酸的相对含量显著过量。尿液中组氨酸的相对含量也显著过量，但血浆中未出现这种情况。天冬酰胺+天冬氨酸过量可能与嘌呤代谢紊乱有关。尿液中组氨酸过量可能与氨基酸分解代谢紊乱有关。
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