PEDIATRICS Vol. 70 No. 4 October 1982, pp. 647-648
This Article
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Brusilow, S. W.
Right arrow Articles by Waber, L. J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Brusilow, S. W.
Right arrow Articles by Waber, L. J.

Screening for Lethal Genetic Disease

Saul W. Brusilow MD1, David L. Valle MD1, Mark L. Batshaw MD1, and Lewis J. Waber MD, PhD1

1 Division of Metabolic Diseases, Department of Pediatrics, The Johns Hopkins University, School of Medicine, Baltimore

Neonatal genetic screening was originally devised for phenylketonuria (PKU) which, although clinically silent during the immediate neonatal period, nonetheless requires prompt diagnosis and therapy soon thereafter to minimize brain damage.

Screening procedures have now been introduced for a number of other diseases: one group shares the asymptomatic qualities of phenylketonuria in the newborn period (eg, hypothyroidism) and a second group (maple syrup urine disease, organic acidurias, galactosemia) exhibits life-threatening symptoms in the immediate neonatal period that demand immediate diagnosis and therapy.

In this issue Talbot et al (Pediatrics 70:526, 1982)1 propose new screening procedures for two diseases that fall into the former group (argininemia and the hyperornithemias) and two diseases, argininosuccinate synthetase and lyase deficiencies, that fail into the latter group.