Document Detail

Long term outcome of organic acidurias: survey of 105 French cases (1967-1983).
MedLine Citation:
PMID:  6434836     Owner:  NLM     Status:  MEDLINE    
The French experience in the long term follow-up of 105 cases of organic aciduria (45 maple syrup urine disease, 12 isovaleric acidaemia, 19 propionic acidaemia, 24 methylmalonic aciduria and some rare allied disorders) is reported. Main conclusions drawn from this survey are the poor overall prognosis and the slow improvement in the outcome of such disorders over the last 15 years. In MSUD, while early diagnosis and early management remain a basic requirement, intellectual development did not improve as much as expected. In propionic and methylmalonic acidaemia modern treatment does not prevent a fatal outcome in the classical neonatal forms. It should be also emphasized that in the rare cases where a coenzyme deficiency has been demonstrated, vitamin therapy is very often ineffective in vivo.
R Rousson; P Guibaud
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  7 Suppl 1     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1984  
Date Detail:
Created Date:  1984-11-09     Completed Date:  1984-11-09     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  10-2     Citation Subset:  IM    
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MeSH Terms
Acids / urine*
Child, Preschool
Infant, Newborn
Maple Syrup Urine Disease / therapy
Metabolism, Inborn Errors / therapy*
Methylmalonic Acid / blood
Pentanoic Acids / blood
Propionic Acids / blood
Time Factors
Reg. No./Substance:
0/Acids; 0/Pentanoic Acids; 0/Propionic Acids; 503-74-2/isovaleric acid; 516-05-2/Methylmalonic Acid; 79-09-4/propionic acid

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

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