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

Author

A. Doležal, Homolka J, Z. Třesohlavá, Josef Hyánek, J. Trnka, Kapras J, Losan F, Sona Nevsimalova, M. Malá, Cervenka J, Srácek J, Hoza J, Seemanová E, Viletová H, and V. Vácha

Subjects
Adult, Male, medicine.medical_specialty, Phenylalanine, Physiology, Biology, Pregnancy, Internal medicine, Genetics, medicine, Humans, Amino Acids, Metabolic disease, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), chemistry.chemical_classification, Incidence (epidemiology), Metabolism, medicine.disease, Pedigree, Amino acid, Pregnancy Complications, Paper chromatography, Endocrinology, chemistry, Tyrosine, Female, Phenylalanine metabolism
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.

Published
1978
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8. Results of screening for phenylalanine and other amino acid disturbances among pregnant women.

Author

Hyánek J, Homolka J, Trnka J, Seemanová E, Cervenka J, Tresohlavá Z, Kapras J, Dolezal A, Srácek J, Vácha V, Hoza J, Losan F, Nevsímalová S, Malá M, and Viletová H

Subjects
Adult, Amino Acid Metabolism, Inborn Errors complications, Amino Acid Metabolism, Inborn Errors genetics, Female, Humans, Male, Pedigree, Pregnancy, Tyrosine blood, Amino Acid Metabolism, Inborn Errors diagnosis, Amino Acids blood, Phenylalanine blood, Pregnancy Complications diagnosis
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.

Published
1980
Full Text
View/download PDF

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