1. Results of screening for phenylalanine and other amino acid disturbances among pregnant women
- Author
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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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