N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.

Journal of inherited metabolic disease ·Vol. 21 ·No. 8 ·1998-12-00 ·Pages 867-8

Morris AA, Richmond SW, Oddie SJ, Pourfarzam M, Worthington V, Leonard JV

Abstract

暂无摘要

MeSH Terms

Acetyltransferases/deficiency Amino-Acid N-Acetyltransferase Ammonia/blood Citrulline/blood Consanguinity Dietary Proteins/administration & dosage Female Glutamates/therapeutic use Glutamine/blood Humans Infant, Newborn Mitochondria, Liver/enzymology

Chemicals

Dietary Proteins Glutamates Glutamine N-carbamylglutamate Citrulline Ammonia Acetyltransferases Amino-Acid N-Acetyltransferase NAGS protein, human

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Morris A A

Royal Victoria Infirmary, Newcastle-upon-Tyne, UK.

Richmond S W

Oddie S J

Pourfarzam M

Worthington V

Leonard J V

References (3)

3 references, click to expand

Development of pyrroline-5-carboxylate synthase and N-acetylglutamate synthase and their changes in lactation and aging.
Arch Biochem Biophys. 1991 Nov 15;291(1):15-23 PMID: 1929426
A new neonatal case of N-acetylglutamate synthase deficiency treated by carbamylglutamate.
J Inherit Metab Dis. 1995;18(1):61-5 PMID: 7623444
N-Acetylglutamate synthetase deficiency responding to carbamylglutamate.
J Inherit Metab Dis. 1997 Nov;20(6):839-40 PMID: 9427158

Article Info

Journal

Journal of inherited metabolic disease

Abbr.

J Inherit Metab Dis

ISSN

0141-8955

DOI

10.1023/a:1005478904186

Published

1998-12-00

Pages

867-8

Language

English

Region

United States

NLM ID

7910918

Subset

External Links

PubMed source DOI: 10.1023/a:1005478904186 View journal details

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N-acetylglutamate synthetase deficiency: favourable experience with carbamylglutamate.

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