Document Detail

Seven years of experience with selective screening for organic acidurias.
MedLine Citation:
PMID:  6468445     Owner:  NLM     Status:  MEDLINE    
Between 1975 and 1981 nearly 9000 patients with suspected inherited metabolic diseases were investigated by a selective screening procedure including, apart from simple tests for ketone bodies, sugars and SH-containing compounds, high voltage electrophoresis of amino acids as well as gas liquid chromatography and gas liquid chromatography-mass spectrometry of the organic acids. Fifty-two cases with 18 different inborn errors of metabolism were detected. The effectivity index was calculated to be 0.6% or 1 case in about 170 requests. From the presented and from already existing data in the literature the overall incidences for all organic acidurias together and for propionic acidemia separately were appraised to be 1:10000 and 1:50000, respectively. About half of the patients diagnosed by this screening may benefit from the diagnosis.
W Lehnert; H Niederhoff
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  European journal of pediatrics     Volume:  142     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1984 Aug 
Date Detail:
Created Date:  1984-10-25     Completed Date:  1984-10-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY, WEST    
Other Details:
Languages:  eng     Pagination:  208-10     Citation Subset:  IM    
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MeSH Terms
Carboxylic Acids / urine*
Gas Chromatography-Mass Spectrometry
Germany, West
Metabolism, Inborn Errors / diagnosis,  epidemiology*
Reg. No./Substance:
0/Carboxylic Acids

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