Document Detail

Current approaches to genetic metabolic screening in newborns.
MedLine Citation:
PMID:  7849819     Owner:  NLM     Status:  MEDLINE    
Genetic metabolic screening in newborn infants includes both specific testing for clinical indications in sick neonates and routine newborn screening. The decision of which sick neonates should have metabolic testing is based on the clinical phenotype and the results of general laboratory analyses, with particular attention to hypoglycemia, metabolic acidosis, and hyperammonemia. Metabolic tests include analyses for amino acids and organic acids and a carnitine profile. Routine newborn screening should be performed on all neonates prior to hospital discharge but no later than the 3rd day of life. The disorders covered by newborn screening vary among the states and among countries but virtually always include phenylketonuria and congenital hypothyroidism and often include sickle cell disease and galactosemia. Other metabolic disorders that may be included in newborn screening are maple syrup urine disease, homocystinuria, biotinidase deficiency, and congenital adrenal hyperplasia.
H L Levy; A S Cornier
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Current opinion in pediatrics     Volume:  6     ISSN:  1040-8703     ISO Abbreviation:  Curr. Opin. Pediatr.     Publication Date:  1994 Dec 
Date Detail:
Created Date:  1995-03-14     Completed Date:  1995-03-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9000850     Medline TA:  Curr Opin Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  707-11     Citation Subset:  IM    
Department of Medicine, Children's Hospital, Boston, MA 02115.
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MeSH Terms
Infant, Newborn
Metabolism, Inborn Errors / diagnosis*
Neonatal Screening / methods*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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