Hudson memorial lecture View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1984-03

AUTHORS

J. M. Saudubray, H. Ogier, C. Charpentier, E. Depondt, F. X. Coudé, A. Munnich, G. Mitchell, F. Rey, J. Rey, J. Frézal

ABSTRACT

Therapeutic guidelines have been obtained from a retrospective review of 41 patients affected with organic acidaemias, 16 patients with neonatal maple syrup urine disease (MSUD), 11 methylmalonic acidaemia, (MMA) seven propionic acidaemias (PA) and seven isovaleric acidaemias (IVA), and by comparing this personal series with similar reported cases. The emergency treatment of these organic acidurias in the neonate has to main goals: toxin removal and anabolism. Anabolism is always promoted by early diet therapy. The best method of toxin removal depends on the nature of the defect; peritoneal dialysis with exchange transfusions or multiple or prolonged exchange transfusions in MSUD and in PA, diuresis and exchange transfusions in MMA and glycine supplementation in IVA. Vitamin supplementation (thiamine 20 mg, biotin 10 mg, B12 2 mg and riboflavin 100 mg) should be tried in all cases although the neonatal forms of these defects are very rarely vitamin responsive. Additional treatments such as carnitine or insulin may prove to be useful. More... »

PAGES

2-9

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf03047365

DOI

http://dx.doi.org/10.1007/bf03047365

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1042803388

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/6434839


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