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苯丙酮尿症和高苯丙氨酸血症携带者的苯丙氨酸代谢与智力功能

Phenylalanine metabolism and intellectual functioning among carriers of phenylketonuria and hyperphenylalaninaemia.

作者信息

Ford R C, Berman J L

出版信息

Lancet. 1977 Apr 9;1(8015):767-71. doi: 10.1016/s0140-6736(77)92955-5.

DOI:10.1016/s0140-6736(77)92955-5
PMID:66568
Abstract

All members of 63 families who had phenylketonuric or hyperphenylalaninaemic offspring received a phenylalanine tolerance test and an individual intelligence test. Parent carriers (heterozygotes, n=115) displayed a significant relationship (canonical correlation R=0.75, P is less than 0.05) between their ability to metabolise phenylalanine and their intellectual strengths and weaknesses. Mothers of hyperphenylalaniaemic children did not show this relationship. The number of carrier children (n=40) was too small for multivariate or sex analysis, but significant bivariate correlations were found for this group.

摘要

63个生育了苯丙酮尿症或高苯丙氨酸血症后代的家庭的所有成员都接受了苯丙氨酸耐量试验和个体智力测试。父母携带者（杂合子，n = 115）在其代谢苯丙氨酸的能力与其智力优势和劣势之间呈现出显著关系（典型相关系数R = 0.75，P < 0.05）。高苯丙氨酸血症儿童的母亲未表现出这种关系。携带者儿童的数量（n = 40）过少，无法进行多变量或性别分析，但该组发现了显著的双变量相关性。

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Phenylalanine metabolism and intellectual functioning among carriers of phenylketonuria and hyperphenylalaninaemia.苯丙酮尿症和高苯丙氨酸血症携带者的苯丙氨酸代谢与智力功能
Lancet. 1977 Apr 9;1(8015):767-71. doi: 10.1016/s0140-6736(77)92955-5.
2
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Proc Natl Acad Sci U S A. 1978 Mar;75(3):1562-6. doi: 10.1073/pnas.75.3.1562.

引用本文的文献

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Neurol Sci. 2018 Jan;39(1):161-164. doi: 10.1007/s10072-017-3181-5. Epub 2017 Nov 9.
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Inherited metabolic diseases affecting the carrier.影响携带者的遗传性代谢疾病。
J Inherit Metab Dis. 1997 Mar;20(1):9-20. doi: 10.1023/a:1005397120726.
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Neuropsychological and biochemical investigations in heterozygotes for phenylketonuria during ingestion of high dose aspartame (a sweetener containing phenylalanine).
苯丙酮尿症杂合子在摄入高剂量阿斯巴甜（一种含苯丙氨酸的甜味剂）期间的神经心理学和生化研究。
Hum Genet. 1994 Apr;93(4):369-74. doi: 10.1007/BF00201660.
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Genes for super-intelligence?超级智能基因？
J Med Genet. 1981 Dec;18(6):410-3. doi: 10.1136/jmg.18.6.410.
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Sex effect on the risk of mental retardation.性别对智力迟钝风险的影响。
Behav Genet. 1980 May;10(3):327-9. doi: 10.1007/BF01067778.
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Cord-blood tyrosine levels in the full-term phenylketonuric fetus and the "justification hypothesis".足月苯丙酮尿症胎儿的脐血酪氨酸水平与“合理性假说”
Proc Natl Acad Sci U S A. 1980 Oct;77(10):6175-8. doi: 10.1073/pnas.77.10.6175.
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Intracellular concentrations of phenylalanine, tyrosine and alpha-aminobutyric acid in 13 homozygotes and 19 heterozygotes for phenylketonuria compared with 26 normals.将13名苯丙酮尿症纯合子和19名杂合子的细胞内苯丙氨酸、酪氨酸和α-氨基丁酸浓度与26名正常人进行比较。
J Inherit Metab Dis. 1981;4(2):73-4. doi: 10.1007/BF02263597.
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