Document Detail

DNA techniques for screening of inborn errors of metabolism.
MedLine Citation:
PMID:  7957392     Owner:  NLM     Status:  MEDLINE    
Molecular genetic techniques are being used increasingly in newborn screening programs. Initial applications involved genotypic confirmation of positive screening tests by DNA microextraction or direct amplification from the dried blood spots. More recently we have shown that RNA can be microextracted from newborn screening specimens, treated with reverse transcriptase and amplified by the polymerase chain reaction. Primary DNA screening is being considered for medium chain acyl-CoA dehydrogenase deficiency in an attempt to identify and treat affected children before their first hypoglycemic episodes. An exciting new development is the application of DNA "fingerprinting" to the microorganisms used in the bacterial inhibition assays for quality control of these critical biological reagents. Thus, molecular genetic approaches will be valuable, not only for confirmatory testing, but also for primary newborn screening for inborn errors of metabolism.
E R McCabe
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  European journal of pediatrics     Volume:  153     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1994  
Date Detail:
Created Date:  1994-12-27     Completed Date:  1994-12-27     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  S84-5     Citation Subset:  IM    
Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Acyl-CoA Dehydrogenase
Acyl-CoA Dehydrogenases / deficiency
DNA / analysis
DNA Fingerprinting
Infant, Newborn
Mass Screening*
Metabolism, Inborn Errors / genetics,  prevention & control*
Polymerase Chain Reaction
Reg. No./Substance:
9007-49-2/DNA; EC 1.3.-/Acyl-CoA Dehydrogenases; EC Dehydrogenase

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

Previous Document:  The investigation of inborn errors in vivo using stable isotopes.
Next Document:  Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis befor...