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Results of screening for phenylalanine and other amino acid disturbances among pregnant women
Author(s) -
Hyánek J.,
Homolka J.,
Trnka J.,
Seemanová E.,
Červenka J.,
Třesohlavá Z.,
Kapras J.,
Doležal A.,
Šráček J.,
Vácha V.,
Hoza J.,
Lošan F.,
Nevšímalová S.,
Malá M.,
Viletová H.
Publication year - 1979
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01801720
Subject(s) - phenylalanine , incidence (geometry) , pregnancy , amino acid , amino acid metabolism , medicine , metabolism , hyperphenylalaninemia , biochemistry , biology , genetics , physics , optics
Abstract 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.