PT  - JOURNAL ARTICLE
AU  - Dagli, Aditi I.
AU  - Zori, Roberto T.
AU  - Heese, Bryce A.
TI  - Testing Strategy for Inborn Errors of Metabolism in the Neonate
AID  - 10.1542/neo.9-7-e291
DP  - 2008 Jul 01
TA  - NeoReviews
PG  - e291--e298
VI  - 9
IP  - 7
4099  - http://neoreviews.aappublications.org/content/9/7/e291.short
4100  - http://neoreviews.aappublications.org/content/9/7/e291.full
SO  - NeoReviews2008 Jul 01; 9
AB  - Early detection and management of inborn errors of metabolism (IEMs) can improve the affected infant's prognosis. Initial screening tests can provide a general overview of the infant's metabolic status and suggest potential IEMs. Among the clinical findings seen in many IEMs are encephalopathy, hypoglycemia, jaundice and liver disease, cardiac arrhythmias, cardiomyopathy, hypotonia, dysmorphic features, and nonimmune hydrops. Confirmatory testing (enzyme analysis or molecular DNA testing) are required to make the diagnosis. Clinicians should be aware of specific requirements for such testing to obtain the desired results.