Results of screening for phenylalanine and other amino acid disturbances among pregnant women

Autor: Hyánek, J., Homolka, J., Trnka, J., Seemanová, E., Cervenka, J., Tresohlavá, Z., Kapras, J., Doležal, A., Šrácek, J., Vácha, V., Hoza, J., Lošan, F., Nevšímalová, S., Malá, M., Viletová, H.
Zdroj: Journal of Inherited Metabolic Disease; September 1979, Vol. 2 Issue: 3 p59-63, 5p
Abstrakt: Blood specimens were collected from 15000 pregnant women during the first 3 months of their pregnancy and screened for amino acid disturbances by means of paper chromatography. A high incidence of disturbances in the phenylalanine metabolism was discovered: three cases of mild hyperphenylalaninaemia without phenylpyruvicaciduria (incidence 1:5000); two cases of mild hyperphenylalaninaemia with phenylpyruvicaciduria (incidence 1:7550); four cases of mild phenylketonuria (incidence 1:3750). Disturbances in the metabolism of other amino acids were found to be rare. Metabolic and genealogical findings in some detected families are briefly described.
Databáze: Supplemental Index
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