精氨琥珀酸尿症和“母体高胱氨酸尿症”中的胎儿组织氨基酸浓度。

Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria".

作者信息

Rassin D K, Fleisher L D, Muir A, Desnick R J, Gaull G E

出版信息

Clin Chim Acta. 1979 Jun 1;94(2):101-8. doi: 10.1016/0009-8981(79)90001-9.

Abstract

Free amino acid concentrations have been measured in the tissues of a fetus at risk for argininosuccinic aciduria and of an obligate heterozygous fetus in a mother homozygous for homocystinuria. Argininosuccinic acid was detected in all tissues studied of the homozygous affected fetus from the heterozygous mother. Abnormal concentrations of methionine and cystathionine were observed in the tissues of the fetus who was an obligate heterozygote for homocystinuria. These abnormal free amino acid concentrations occur early in fetal development and may be related to later brain dysfunction.

摘要

已对一名有精氨琥珀酸尿症风险的胎儿以及一名同型胱氨酸尿症纯合子母亲所怀的 obligate 杂合子胎儿的组织中的游离氨基酸浓度进行了测量。在来自杂合子母亲的纯合子患病胎儿的所有研究组织中均检测到精氨琥珀酸。在作为同型胱氨酸尿症 obligate 杂合子的胎儿组织中观察到蛋氨酸和胱硫醚的浓度异常。这些游离氨基酸浓度异常在胎儿发育早期就出现，可能与后期的脑功能障碍有关。