FETAL TISSUE AMINO-ACID CONCENTRATIONS IN ARGININOSUCCINIC ACIDURIA AND IN MATERNAL HOMOCYSTINURIA

被引：11

作者：

RASSIN, DK

FLEISHER, LD

MUIR, A

DESNICK, RJ

GAULL, GE

机构：

[1] CUNY MT SINAI SCH MED, DIV MED GENET, NEW YORK, NY 10029 USA

[2] CUNY MT SINAI SCH MED, DEPT PEDIAT, NEW YORK, NY 10029 USA

[3] CASE WESTERN RESERVE UNIV, DEPT MED, CLEVELAND, OH 44106 USA

来源：

CLINICA CHIMICA ACTA | 1979年 / 94卷 / 02期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/0009-8981(79)90001-9

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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. © 1979.

引用

页码：101 / 108

页数：8

共 16 条

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