[Emergency treatment of inborn amino errors of amino acid metabolism detected in the neonatal period].
The indications and effects of exchange transfusion, peritoneal dialysis, osmotic diuresis and early feeding have been studied in 28 children with inborn errors of aminoacid metabolism presenting in the neonatal period. Exchange-transfusion has only a transitory and incomplete effect but it is simple and quick. Peritoneal dialysis has a remarkable and often life-saving effect because the blood levels of toxic metabolites are reduced very effectively in organic acidaemias. However the rate of removal may decline if plasma concentrations fall below a critical level (1.2 mmol/L foor leucine). If the dialysis is prolonged for more than 36 hours it may cause hypoprotidaemia. Osmotic diuresis increases the 45 ml/min. However it is of little elimination of methylmalonic acid because the renal clearance is between 15 and 45 ml/min. However it is of little value in maple syrup urine disease, propionic acidaemia or isovaleric acidaemia because the renal clearance of the toxic metabolites is so low. The early re-introduction of low protein high calorie of a low protein and high calorie diet by continuous intragastric feeding is very important. The authors propose a protocol for the treatment of babies presenting inborn errors of aminoacid metabolism in the neonatal period. Peritoneal dialysis should be started as soon as the diagnosis is considered and continued for 24 to 36 hours. An exchange of transfusion shold be undertaken before and after the dialysis, together with an osmotic diuresis if appropriate. Continuous enteral feeding should be given, the quantity being adjusted to the baby's requirements.
D000592:Amino Acid Metabolism, Inborn Errors / Q000628:therapy*; D000641:Ammonia / Q000097:blood; D004234:Diuretics, Osmotic / Q000627:therapeutic use; D004630:Emergencies; D004750:Enteral Nutrition / Q000379:methods; D005078:Exchange Transfusion, Whole Blood; D006801:Humans; D007231:Infant, Newborn; D007930:Leucine / Q000097:blood; D008764:Methylmalonic Acid / Q000097:blood; D010530:Peritoneal Dialysis; D011422:Propionates / Q000097:blood; D014631:Valerates / Q000097:blood
D004234:Diuretics, Osmotic; D011422:Propionates; D014631:Valerates; D000641:Ammonia; D008764:Methylmalonic Acid; D007930:Leucine
Traitement d'urgence des aminoacidopathies à révélation nónatale.