medigraphic.com
SPANISH

Revista Mexicana de Pediatría

ISSN 0035-0052 (Print)
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
    • Send manuscript
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

1999, Number 2

<< Back Next >>

Rev Mex Pediatr 1999; 66 (2)

Algoritmo clínico-biológico para el diagnóstico de los errores innatos del metabolismo en neonatos enfermos

Vega HME, Chávez TR
Full text How to cite this article

Language: Spanish
References: 18
Page: 64-70
PDF size: 136.41 Kb.


Key words:

Error of metabolism, neonatal diagnosis, metabolic screening.

ABSTRACT

Detection of inborn errors of metabolism relies only in part on screening programs and depends primarily on a high index of clinical suspicion and coordinated access to expert laboratory services. This make it absolutely necessary to teach primary care clinicians a simple method of clinical screening and a protocol for collecting biologic markers to apply the clinical-biological algorithm for the diagnosis of inborn errors of metabolism in critically ill newborns.
The growing complexity of such investigations needs close collaboration within a multidisciplinary team to link clinical data with the biological findings.


REFERENCES

  1. Mckusick Va. Mendelian inheritance in man: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes. 10th ed. The Johns Hopkins University Press, Baltimore 1992.

  2. Velázquez A, Loera-Luna A, Aguirre BE, Gamboa S, Vargas H, Robles C. Tamiz neonatal para hipotiroidismo congénito y fenilcetonuria. Salud Pública Mex 1994; 36: 249-56.

  3. Chávez-Torres R, Vega-Hernández ME. Tamiz neonatal en América Latina: problemas y propuestas derivadas de la práctica clínica. Rev Mex Ped 1995; 62: 102-7.

  4. Strobel SE, Keller ChS. Metabolic screening in the NIUC population: A proposal for change. Pediatric Nursing 1993; 19: 113-17.

  5. Green A. Screening for metabolic disorders. Practitioner 1993; 237: 442-45.

  6. American Academy of Pediatrics, Committee on Genetics. Newborn screening fact sheets. Pediatrics 1996; 98: 473-501.

  7. Bartlett K, Eaton SJ, Pourfarzam M. New developments in neonatal screening. Arch Dis Child 1997; 77: F151-F154.

  8. Scriver CR, Beaudet AL, Sly WS, editors. The metabolic basic of inherited disease. New York: Mc Graw-Hill Inc 1996.

  9. Galjaard H. Incidences and recurrences risks for various categories of congenital disorders. Early diagnosis and prevention. In: Genetic Metabolic Disease. Amsterdam: Elsevier/North-Holland Biomedical Press 1980: 5-37.

  10. Secretaría de Salud: Norma técnica número 321 para la prevención del retraso mental producido por hipotiroidismo congénito. Diario Oficial de la Federación. Tomo CDXX. No. 14, 22 de septiembre 1988: 88-90.

  11. Martínez CG, Andalon GA, Zafra RG, Pedraza LM. Experiencia de tamiz neonatal para Hiperplasia Suprarrenal Congénita. En: Asociación Mexicana de Genética Humana A.C. editores. XXIII Congreso Nacional de Genética Humana 1998 Nov 4-7; Guanajuato, Gto. 1998 p.CGM-03.

  12. Velázquez A. El nuevo tamiz neonatal: una revolución en la pediatría preventiva. Bol Hosp Infant Mex 1998; 55: 313-15.

  13. Levy HL, Cornier AS. Current approaches to genetic metabolic screening in newborns. Current Opinion Pediatr 1994; 6: 707-11.

  14. Vega-Hernández ME, Chávez-Torres R. El tamiz metabólico neonatal en neonatos enfermos de un hospital de concentración. Rev Mex Ped 1998; 65: 200-206.

  15. Winchester B, Young E. Prenatal diagnosis of enzyme defects-an update. Arch Dis Child 1991; 66: 451-54.

  16. Gray JE, Sorrentino JE, Matheson GA, Wise P, McCormick MC. Failure to screen newborns for inborn disorders: a potential consequence of changes in newborn care. Early Human Dev 1997; 48: 279-85.

  17. Enfermedades metabólicas congénitas. En: Nestlé Nutrition Services, editores. Resúmen del 24o Seminario de Nutrición de Nestlé. Bruselas, Bélgica 1989; Sept 24-28

  18. Katzman PJ, Arnold GL. Propionic Acidemia presenting as Pyloric Stenosis. Clin Ped 1995; Nov: 613-15.




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Rev Mex Pediatr. 1999;66