Saudi aminoacidemias: a six-year study

Indian J Pediatr. 1996 Sep-Oct;63(5):641-4. doi: 10.1007/BF02730809.

Abstract

More than 2,500 samples were analyzed and we found 135 abnormal amino acid patients in different categories. The major four diseases are: Maple syrup urine disease (MSUD), Phenylketonuria (PKU) both classical PKU due to L-phenylalanine hydroxylase deficiency and 6-pyruvoyl tetrahydropterin synthase (6PTPS) deficiency, homocystinuria and Tyrosinemia.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / epidemiology
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Amino Acids / blood*
  • Consanguinity
  • Humans
  • Infant
  • Infant, Newborn
  • Neonatal Screening
  • Saudi Arabia

Substances

  • Amino Acids