Popescu, Valeriu; Antrasian, Alis; Zamfirescu, Andrei
November 2009
Romanian Journal of Pediatrics;2009, Vol. 58 Issue 4, p353
Academic Journal
Routine screening of newborn infants for metabolic disorders was introduced in 1961 after Bickel established an effective dietary therapy for phenyketonuria (PKU) and Guthrie developed a bacterial inhibition assay to detect elevated concentrations of phenylalanine in dried blood tests. Over time, neonatal screening has been expanded to several other treatable metabolic and endocrine disorders, including galactosemia, biotinidase deficiency, congenital hypothiroidism, congenital adrenal hyperplasia. A major step in recent years has been the development of routine acylcarnitine and aminoacid analysis in Guthrie cards by tandem mass spectroscopy. Researchers at Duke University developed tandem mass spectroscopy of acylcarnitines and aminoacids for expanded newborn screening in the early 1990's. It allows for screening aminoacidopathies, including PKU, organic acidurias and disorders of fatty acids oxidation. A positive result often constitutes a metabolic emergency as infants with many of the disorders diagnosed by the technique can become critically ill in the first days after birth.


Related Articles

  • Translational genetics: Whole-genome sequencing diagnostics for newborns. Flintoft, Louisa // Nature Reviews Genetics;Nov2012, Vol. 13 Issue 11, p758 

    The article discusses research on the use of whole-genome sequencing (WGS) in the diagnosis of genetic disorders in newborn infants, which references the study "Rapid whole-genome sequencing for genetic-disease diagnosis in neonatal intensive care units," by C. J. Saunders in the 2012 issue.

  • 15-Day-Old Neonate With Cystic Swelling. Meel, Rachna; Sethi, Sumita; Pushker, Neelam; Ghose, Supriyo // Journal of Pediatric Ophthalmology & Strabismus;Nov/Dec2011, Vol. 48 Issue 6, p333 

    The article offers information about the case of a newborn baby, presented with cystic swelling near the eye and has been diagnosed with congenital bilateral dacryocystoceles.

  • Screening for a better future. O'Connor, Caroline // World of Irish Nursing;Jun2004, Vol. 12 Issue 6, p39 

    Focuses on the introduction of a National Newborn Screening Programme to prevent or limit the extent of irreversible neurological damage in newborn infants in Ireland in 1966. Principles of newborn screening; Information on disorders that are inherited as autosomal recessive traits; Procedures...

  • Annals of Neurology.  // Biomedical Market Newsletter;3/28/2012, Vol. 21, p1 

    The article informs that researchers at the Nationwide Children's Hospital Inc. and University of Utah, Salt Lake City, Utah, have developed an approach to newborn screening for the life-threatening genetic disorder, Duchenne muscular dystrophy and potentially other muscular dystrophies.

  • Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution. Superti-Furga, Andrea // European Journal of Pediatrics. Supplement;2003, Vol. 162, pS17 

    The new technology of tandem mass spectrometry is having a significant impact on the diagnostics of inborn metabolic errors. One of the most important aspects of this new technology is the possibility of recognising a whole class of disorders within a single analytical step. Shall this powerful...

  • Blood cultures in newborns and children: optimising an everyday test. Buttery, J.P. // Archives of Disease in Childhood -- Fetal & Neonatal Edition;Jul2002, Vol. 87 Issue 1, pF25 

    Effective use of blood cultures is a key component of the management of septic newborns and children. The technical and practical aspects of paediatric practice and the heightened susceptibility of children to infection because of immunological immaturity make automatic extrapolation of adult...

  • Pediatricians speak out, FDA on the defensive, youthful obesity targeted. Asch-Goodkin, Judith // Contemporary Pediatrics;Nov2004, Vol. 21 Issue 11, p12 

    Presents news briefs concerning pediatrics in the U.S. as of November 2004. Issuance of a statement by pediatricians against the tax and budget policies of the government; Complaints against the Food and Drug Administration; Recommendation for medical screening of newborns for various genetic...

  • Problems in physicians' classification and reporting of congenital syphilis. Yetman, R. J.; Risser, J. M.; Risser, W. L.; Barth, B. A.; Hwang, L.-Y. // International Journal of STD & AIDS;Dec1998, Vol. 9 Issue 12, p765 

    The diagnosis of congenital syphilis (CS) in newborns can only be made through a review of the mothers' testing and treatment history and through the infants' clinical and laboratory findings. We describe difficulties in the classification of CS by physicians and the health department during a...

  • Experts recommend newborn screening.  // Medical Ethics Advisor;Nov2010, Vol. 26 Issue 11, p130 

    The article offers information on the Endocrine Society's guideline on the diagnosis and treatment of congenital adrenal hyperplasia (CAH). It discusses CAH, which is a genetic disorder of the adrenal glands that make the steroid hormones cortisol, aldosterone, and androgens. The Endocrine...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics