Treatment of inborn errors of urea synthesis. Activation of alternative pathways of waste nitrogen synthesis and excretion

M. L. Batshaw, S. Brusilow, L. Waber, W. Blom, A. M. Brubakk, B. K. Burton, H. M. Cann, D. Kerr, P. Mamunes, Reuben Matalon, D. Myerberg, I. A. Schafer

Research output: Contribution to journalArticle

208 Citations (Scopus)

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 μmol 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.

Original languageEnglish (US)
Pages (from-to)1387-1392
Number of pages6
JournalNew England Journal of Medicine
Volume306
Issue number23
StatePublished - 1982
Externally publishedYes

Fingerprint

Urea
Nitrogen
Ammonium Compounds
Sodium Benzoate
Citrulline
Benzoates
Coma
Arginine
Therapeutics
Head
Weights and Measures
Mortality
hippuric acid

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Batshaw, M. L., Brusilow, S., Waber, L., Blom, W., Brubakk, A. M., Burton, B. K., ... Schafer, I. A. (1982). Treatment of inborn errors of urea synthesis. Activation of alternative pathways of waste nitrogen synthesis and excretion. New England Journal of Medicine, 306(23), 1387-1392.

Treatment of inborn errors of urea synthesis. Activation of alternative pathways of waste nitrogen synthesis and excretion. / Batshaw, M. L.; Brusilow, S.; Waber, L.; Blom, W.; Brubakk, A. M.; Burton, B. K.; Cann, H. M.; Kerr, D.; Mamunes, P.; Matalon, Reuben; Myerberg, D.; Schafer, I. A.

In: New England Journal of Medicine, Vol. 306, No. 23, 1982, p. 1387-1392.

Research output: Contribution to journalArticle

Batshaw, ML, Brusilow, S, Waber, L, Blom, W, Brubakk, AM, Burton, BK, Cann, HM, Kerr, D, Mamunes, P, Matalon, R, Myerberg, D & Schafer, IA 1982, 'Treatment of inborn errors of urea synthesis. Activation of alternative pathways of waste nitrogen synthesis and excretion', New England Journal of Medicine, vol. 306, no. 23, pp. 1387-1392.
Batshaw, M. L. ; Brusilow, S. ; Waber, L. ; Blom, W. ; Brubakk, A. M. ; Burton, B. K. ; Cann, H. M. ; Kerr, D. ; Mamunes, P. ; Matalon, Reuben ; Myerberg, D. ; Schafer, I. A. / Treatment of inborn errors of urea synthesis. Activation of alternative pathways of waste nitrogen synthesis and excretion. In: New England Journal of Medicine. 1982 ; Vol. 306, No. 23. pp. 1387-1392.
@article{3619be2d592f47e3ba4a79d5e7e350f9,
title = "Treatment of inborn errors of urea synthesis. Activation of alternative pathways of waste nitrogen synthesis and excretion",
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 μmol 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.",
author = "Batshaw, {M. L.} and S. Brusilow and L. Waber and W. Blom and Brubakk, {A. M.} and Burton, {B. K.} and Cann, {H. M.} and D. Kerr and P. Mamunes and Reuben Matalon and D. Myerberg and Schafer, {I. A.}",
year = "1982",
language = "English (US)",
volume = "306",
pages = "1387--1392",
journal = "New England Journal of Medicine",
issn = "0028-4793",
publisher = "Massachussetts Medical Society",
number = "23",

}

TY - JOUR

T1 - Treatment of inborn errors of urea synthesis. Activation of alternative pathways of waste nitrogen synthesis and excretion

AU - Batshaw, M. L.

AU - Brusilow, S.

AU - Waber, L.

AU - Blom, W.

AU - Brubakk, A. M.

AU - Burton, B. K.

AU - Cann, H. M.

AU - Kerr, D.

AU - Mamunes, P.

AU - Matalon, Reuben

AU - Myerberg, D.

AU - Schafer, I. A.

PY - 1982

Y1 - 1982

N2 - 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 μmol 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.

AB - 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 μmol 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.

UR - http://www.scopus.com/inward/record.url?scp=0020057470&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0020057470&partnerID=8YFLogxK

M3 - Article

C2 - 7078580

AN - SCOPUS:0020057470

VL - 306

SP - 1387

EP - 1392

JO - New England Journal of Medicine

JF - New England Journal of Medicine

SN - 0028-4793

IS - 23

ER -