Abstract
Routine newborn screening for maple syrup urine disease (MSUD) has been conducted since 1964, and more than 9½ million newborns throughout the world have been tested with use of a bacterial inhibition assay (BIA) for leucine on dried filter paper blood specimens. Forty-three confirmed cases of the "classical" and the "intermediate" variant forms have been detected. The frequency of MSUD, based on these data, is approximately one in 224,000 newborns. The sensitivity and the specificity of the leucine BIA are demonstrated. There are several problems in routine screening for MSUD, including the fact that the "intermittent" variant form will be missed. A brief summary of the clinical course of the 13 cases detected by our collaborative laboratories is presented.
- Received August 3, 1977.
- Accepted September 21, 1977.
- Copyright © 1978 by the American Academy of Pediatrics
Individual Login
Institutional Login
You may be able to gain access using your login credentials for your institution. Contact your librarian or administrator if you do not have a username and password.
Log in through your institution
Pay Per Article - You may access this article (from the computer you are currently using) for 2 days for US$25.00
Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.
In this issue
Jump to section
Related Articles
Cited By...
- Second-Tier Test for Quantification of Alloisoleucine and Branched-Chain Amino Acids in Dried Blood Spots to Improve Newborn Screening for Maple Syrup Urine Disease (MSUD)
- Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
- Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients
- New developments in neonatal screening