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

J Inherit Metab Dis. 1980;2(3):59-63. doi: 10.1007/BF01801720.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Amino Acids
  • Tyrosine
  • Phenylalanine