Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion

N Engl J Med. 1982 Jun 10;306(23):1387-92. doi: 10.1056/NEJM198206103062303.

Abstract

Children with inborn errors of urea synthesis accumulate ammonium and other nitrogenous precursors of urea, leading to episodic coma and a high mortality rate. We used alternative pathways for the excretion of waste nitrogen as substitutes for the defective ureagenic pathways in 26 infants. These pathways involve synthesis and excretion of hippurate after sodium benzoate administration, and of citrulline and argininosuccinate after arginine supplementation. The children were treated for seven to 62 months; 22 survived. The mean plasma level of ammonium ( +/- S.E.) was 36 +/- 2 mumol per liter, and that of benzoate was 1.5 +/- 1.0 mg per deciliter. Alternative pathways accounted for between 28 and 59 per cent of the total "effective" excretion of waste nitrogen. Nineteen infants had normal height, weight, and head circumference, and 13 had normal intellectual development. Activation of alternative pathways of waste nitrogen excretion can prolong survival and improve clinical outcome in children with inborn errors of urea synthesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diet therapy
  • Amino Acid Metabolism, Inborn Errors / drug therapy
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Amino Acid Metabolism, Inborn Errors / therapy*
  • Amino Acids, Essential / administration & dosage
  • Ammonia / blood*
  • Arginine / administration & dosage*
  • Argininosuccinate Synthase / deficiency
  • Argininosuccinic Aciduria
  • Benzoates / administration & dosage*
  • Benzoic Acid
  • Carbamoyl-Phosphate Synthase (Ammonia) / deficiency
  • Child, Preschool
  • Citrulline / blood
  • Coma / etiology
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Infusions, Parenteral
  • Male
  • Nitrogen / metabolism*
  • Ornithine Carbamoyltransferase Deficiency Disease
  • Urea / biosynthesis*

Substances

  • Amino Acids, Essential
  • Benzoates
  • Citrulline
  • Ammonia
  • Benzoic Acid
  • Urea
  • Arginine
  • Carbamoyl-Phosphate Synthase (Ammonia)
  • Argininosuccinate Synthase
  • Nitrogen