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先天性代谢缺陷:理解人类行为障碍的线索

Inborn errors of metabolism: clues to understanding human behavioral disorders.

作者信息

Omenn G S

出版信息

Behav Genet. 1976 Jul;6(3):263-84. doi: 10.1007/BF01065723.

Abstract

Detailed behavioral and biochemical investigation of patients with inborn errors of metabolism, especially those intrinsic to the nervous system, may provide many clues to the genetic predisposition underlying human behavioral traits. Relatives of such patients and other individuals with homologous enzymatic lesions due to alleles specifying intermediate activity need to be studied as well. Among the metabolic disorders discussed selectively here, some masquerade as schizophrenia, manic-depressive illness, or hyperactivity syndrome of childhood, providing examples of the striking heterogeneity to be found for these common behavioral disorders.

摘要

对患有先天性代谢缺陷的患者,尤其是神经系统固有的代谢缺陷患者进行详细的行为和生化研究,可能会为人类行为特征背后的遗传易感性提供许多线索。这类患者的亲属以及因等位基因导致中间活性而具有同源酶损伤的其他个体也需要进行研究。在这里选择性讨论的代谢紊乱中,有些表现为精神分裂症、躁郁症或儿童多动综合征,为这些常见行为障碍中存在的显著异质性提供了例证。

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