[Skip to Content]
[Skip to Content Landing]
Article
January 1969

Results of Mass Screening for Hyperaminoacidemias in the Newborn Infant

Author Affiliations

Montreal
From the deBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, Montreal.

Am J Dis Child. 1969;117(1):48-53. doi:10.1001/archpedi.1969.02100030050005
Abstract

OPPORTUNITIES to survey the newborn human infant for the occurrence of a wide variety of aminoacidopathies and to determine "normal" variation in plasma amino acid composition at this age have been rather limited. Most mass screening programs have focused on a single amino acid. The adaptation of simple modified partition chromatographic techniques1,2 to the analysis of amino acids in whole blood or plasma provided the opportunity to perform mass screening for many aminoacidopathies and to evaluate the worth of this endeavor. It was a subject of great interest to Dr. Efron,3 and one which she pioneered with Dr. MacCready and other colleagues until she could work no longer.

In this communication we report on a survey of 36,172 infants, in whom a measured volume of plasma was examined by partition chromatography. Our report follows that completed by Dr. Levy4 after Dr. Efron died, in which her survey

References
1.
Efron, M.L., et al:  A Simple Chromatographic Screening Test for the Detection of Disorders of Amino Acid Metabolism: A Technique Using White Blood or Urine Collected on Filter Paper ,  New Eng J Med 270:1378-1383 ( (June 25) ) 1964.Crossref
2.
Scriver, C.R.; Davies, E.; and Cullen, A.M.:  Application of a Simple Method to the Screening of Plasma for a Variety of Aminoacidopathies ,  Lancet 2:230-232 ( (Aug 1) ) 1964.Crossref
3.
Efron, M.L.: " Some Experiences With Screening for Inborn Errors of Metabolism ," in Crow, J.F., and Neel, J.V. (eds.):  Proceedings of the Third International Congress of Human Genetics , Baltimore: Johns Hopkins Press, 1967, pp 57-60.
4.
Levy, H.L., et al:  Results of a Screening Method for Free Amino Acids ,  Clin Biochem 1:200-207 ( (Jan) ) 1968.Crossref
5.
Kelly, S., and Swift, H.:  Amino Acid Abnormalities in a Mentally Retarded Population ,  Amer J Epidem 85:250-258 ( (March) ) 1967.
6.
Komrower, G.M., et al:  A Prospective Community Survey for Aminoacidemias ,  Proc Roy Soc Med 61:294-296 ( (March) ) 1968.
7.
Scriver, C.R.:  Screening Newborns for Hereditary Metabolic Disease ,  Ped Clin N Amer 12:807-821 ( (Aug) ) 1965.
8.
Avery, M.E., et al:  Transient Tyrosinemia of the Newborn: Dietary and Clinical Aspects ,  Pediatrics 39:378-384 ( (March) ) 1967.
9.
Bloxam, H.R., et al:  An Inborn Defect in the Metabolism of Tyrosine in Infants on a Normal Diet ,  Biochem J 77:320-326 ( (Nov) ) 1960.
10.
Levy, H.L., et al: " Hypermethioninemia and Evaluation of Other Free Amino Acids In Infants on High Protein Intakes ," in  Proceedings of the American Pediatric Society 78th Annual Meeting , Atlantic City, NJ, (May 3) -4, 1968, p 19.
11.
Wong, P.W.K.; Lambert, A.M.; and Komrower, G.M.:  Tyrosinemia and Tyrosyluria in Infancy ,  Develop Med Child Neurol 9:551-562 ( (Oct) ) 1967.Crossref
12.
Partington, M.W.:  Neonatal Tyrosinemia ,  Biol Neonat 12:316-330 ( (No. 5) -6) 1968.Crossref
13.
Scriver, C.R.; Davies, E.; and Lamm, P.:  Accelerated Selective Short Column Chromatography of Neutral and Acidic Amino Acids on a Beckman-Spinco Analyzer, Modified for Simultaneous Analysis of Two Samples ,  Clin Biochem 1:179-191 ( (Jan) ) 1968.Crossref
14.
Partington, M.W.: Case Finding in Phenylketonuria: III. One-Way Paper Chromatography of the Amino-Acids in Blood, Canad Med Assoc J to be published.
15.
Whitehead, R.G.:  Rapid Determination of Some Plasma Amino Acids in Subclinical Kwashiorkor ,  Lancet 1:250-252 ( (Feb 1) ) 1964.Crossref
16.
Rosenblatt, D., and Scriver, C.R.:  Heterogeneity in Genetic Control of Phenylalanine Metabolism in Man ,  Nature 218:677-678 ( (May 18) ) 1968.Crossref
17.
Partington, M.; Scriver, C.R.; and Sass-Kortsak, A. (eds.):  Conference on Hereditary Tyrosinemia ,  Canad Med Assoc J 97:1045-1101 ( (Oct 28) ) 1967.
18.
Snyderman, S.E., et al:  The Plasma Aminogram: I. Influence of the Level of Protein Intake and a Comparison of Whole Protein and Amino Acid Diets ,  Ped Res 2:131-144 ( (March) ) 1968.Crossref
19.
Goodman, S.I., and O'Brien, D.: Transient Neonatal Hypermethioninemia, Pediatrics, to be published.
×