N-acetylglutamate synthetase deficiency, a second patient.

Journal of inherited metabolic disease ·Vol. 11 ·No. 2 ·1988-00-00 ·Pages 191-3

Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo JP

Abstract

A second patient with N-acetylglutamate synthetase deficiency is described. The first symptoms were noted at 6 days of age. The course was lethal despite vigorous treatment. The diagnosis was established after death.

MeSH Terms

Acetyltransferases/deficiency Amino-Acid N-Acetyltransferase Humans Infant, Newborn Male

Chemicals

Acetyltransferases Amino-Acid N-Acetyltransferase NAGS protein, human

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Bachmann C

Department of Clinical Chemistry, Inselspital University of Berne, Switzerland.

Brandis M

Weissenbarth-Riedel E

Burghard R

Colombo J P

References (4)

4 references, click to expand

Diagnosis of urea cycle disorders.
Enzyme. 1987;38(1-4):233-41 PMID: 3440447
N-Acetylglutamate synthetase: enzyme assay in human liver.
J Clin Chem Clin Biochem. 1982 May;20(5):325-9 PMID: 7108453
N-acetylglutamate synthetase (NAGS) deficiency: diagnosis, clinical observations and treatment.
Adv Exp Med Biol. 1982;153:39-45 PMID: 7164912
N-acetylglutamate synthetase deficiency: a disorder of ammonia detoxication.
N Engl J Med. 1981 Feb 26;304(9):543 PMID: 7453791

Article Info

Journal

Journal of inherited metabolic disease

Abbr.

J Inherit Metab Dis

ISSN

0141-8955

DOI

10.1007/BF01799871

Published

1988-00-00

Pages

191-3

Language

English

Region

United States

NLM ID

7910918

Subset

External Links

PubMed source DOI: 10.1007/BF01799871 View journal details

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