Plasma Amino Acids During the First 24 Hours of Life: Feasibility of Early Diagnosis in the Newborn at Risk of Amino Acid Disorders

  • U. Caruso
  • R. Cerone
  • A. R. Fantasia
  • M. C. Schiaffino
  • G. Zignego
  • C. Romano

Abstract

Availability of early diagnosis and early treatment is fundamental to the prevention of neurological damage in patients affected by metabolic disorders with neonatal expression.

Keywords

Cord Blood Maple Syrup Urine Disease Maple Syrup Urine Disease Urea Cycle Disorder Normal Newborn 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Caruso, U., Roncari, S., Scalisi, S. and Romano, C. Programma pilota per lo screening multiplo delle aminoacidopatie e per la verifica dello Screening Regionale PKU: aspetti critici. In Romano, C., Cerone, R. and Caruso, U. (eds.) Aminoacidopatie. Clinica, Biochimica Diagnosi Precoce, Terapia, International Symposium, Rapallo, 15–19 March 1984. Milupa Medical Service PublishingGoogle Scholar
  2. Cerone, R., Caruso, U., Roncari, S. and Romano, C. Multiple screening for aminoacidopathies using TLC: results from a pilot program. 6th National Neonatal Screening Symposium, Portland, Oregon, 22–25 May 1988Google Scholar
  3. Romano, C., Cerone, C., Caruso, U., Gandolfo, A. and Cotellessa, M. Maple Syrup Urine Disease (MSUD): prenatal diagnosis vs branched chain aminoacids levels during the first two days of life. Perspect. Metab. Dis. 6, (1985) 121–124Google Scholar
  4. Romano, C., Cerone, R., Borrone, C., Scalisi, S., Caruso, U. and Gatti, S. Maternal hyperphenylalaninaemia: dietary treatment during the pregnancy. J. Inher. Metab. Dis. 9 suppl. 2 (1986) 225–226CrossRefGoogle Scholar
  5. Romano, C., Cerone, R., Gandolfo, M. T., Schiaffino, M-C., Zignego, G. and Caruso, U. Congenital malformations in the infant of a PKU mother. SSIEM 26th Annual Symposium, Glasgow, 1988, Abstract P23Google Scholar

Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • U. Caruso
    • 1
  • R. Cerone
    • 1
  • A. R. Fantasia
    • 1
  • M. C. Schiaffino
    • 1
  • G. Zignego
    • 1
  • C. Romano
    • 1
  1. 1.University Department of PediatricsG. Gaslini InstituteGenovaItaly

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