Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis

Glutamine synthetase (GS) is a cytosolic enzyme that produces glutamine, the most abundant free amino acid in the human body. Glutamine is a major substrate for various metabolic pathways, and is thus an important factor for the functioning of many organs; therefore, deficiency of glutamine due to a...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Marta Spodenkiewicz, Carmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle-Britschgi, Johannes Häberle
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	MDPI AG 2016-10-01
Schriftenreihe:	Biology
Schlagworte:	glutamine synthetase rare disease GLUL epileptic encephalopathy GS deficiency glutamine-glutamate-GABA hyperammonemia inborn error of metabolism
Online-Zugang:	http://www.mdpi.com/2079-7737/5/4/40
Tags:	Tag hinzufügen Keine Tags, Fügen Sie das erste Tag hinzu!