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Hudson memorial lecture
Author(s) -
Saudubray J. M.,
Ogier H.,
Charpentier C.,
Depondt E.,
Coudé F. X.,
Munnich A.,
Mitchell G.,
Rey F.,
Rey J.,
Frézal J.
Publication year - 1984
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf03047365
Subject(s) - maple syrup urine disease , medicine , thiamine , peritoneal dialysis , anabolism , methylmalonic acidemia , diuresis , urine , riboflavin , endocrinology , physiology , chemistry , biochemistry , amino acid , kidney , leucine
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, B 12 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.