RT Journal Article
SR Electronic
T1 Testing Strategy for Inborn Errors of Metabolism in the Neonate
JF NeoReviews
JO NeoReviews
FD American Academy of Pediatrics
SP e291
OP e298
DO 10.1542/neo.9-7-e291
VO 9
IS 7
A1 Dagli, Aditi I.
A1 Zori, Roberto T.
A1 Heese, Bryce A.
YR 2008
UL http://neoreviews.aappublications.org/content/9/7/e291.abstract
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.