Document Detail

A comprehensive screening method for detecting organic acidurias and other metabolic diseases in acutely sick infants and children.
MedLine Citation:
PMID:  869495     Owner:  NLM     Status:  MEDLINE    
A protocol is described for the comprehensive screening of acutely ill neonates and infants for inherited metabolic diseases, with particular reference to the organic acidurias. A group of simple initial tests provide positive pointers to metabolic disorders, leading to comprehensive screening tests for the aminoacidopathies and organic acidurias. Specimen chromatograms of urinary organic acids in the normal neonate, infant, and child, obtained using the methods described, are given and compared with that from the urine of a child with previously unreported 2-hydroxyglutaric aciduria. The place of the scheme in the management of inherited metabolic disease in the perinatal period and its relationship to other screening programmes are discussed. It is estimated that use of the protocol would allow the detection of about one-half of the known inborn errors of metabolism, including the aminoacidopathies, the organic acidurias, the hyperammonaemias, and several disorders of carbohydrate metabolism, many of which present acutely in the neonate and infant.
R A Chalmers; R W Watts; A M Lawson
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Annals of clinical biochemistry     Volume:  14     ISSN:  0004-5632     ISO Abbreviation:  Ann. Clin. Biochem.     Publication Date:  1977 May 
Date Detail:
Created Date:  1977-07-29     Completed Date:  1977-07-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0324055     Medline TA:  Ann Clin Biochem     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  149-56     Citation Subset:  IM    
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MeSH Terms
Amino Acids / urine*
Carboxylic Acids / urine*
Infant, Newborn
Mass Screening
Metabolism, Inborn Errors / diagnosis*,  urine
Reg. No./Substance:
0/Amino Acids; 0/Carboxylic Acids

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