3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation

3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) deficiency cases diagnosed by only HIBCH gene analysis and novel pathogenic mutation

Objective: 3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported in the literature. Our algorithm could help in the diagnosis of this disease. Methods: HIBCH gene analysis was performed in all cases...

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Bibliographic Details
Main Authors: Nafiye Emel Çakar, Orhan Görükmez
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2021-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
hibch deficiency
hydroxy-c4 carnitine
leigh-like disease
valine metabolism
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=3;spage=372;epage=378;aulast=Cakar

Internet

http://www.annalsofian.org/article.asp?issn=0972-2327;year=2021;volume=24;issue=3;spage=372;epage=378;aulast=Cakar

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