Hudson Memorial Lecture Neonatal Management of Organic Acidurias. Clinical Update View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1984

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 restrospective 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

Book

TITLE

Organic Acidurias

ISBN

978-94-010-8975-3
978-94-009-5612-4

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-94-009-5612-4_2

DOI

http://dx.doi.org/10.1007/978-94-009-5612-4_2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010900928


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