Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Glutaric Aciduria Type I Diagnosis Case with Normal Glutaryl Carnitine and Urine Organic Acid Analysis

Glutaric aciduria Type I (GA-I) is a rare inherited metabolic disease, deficiency of glutaryl-CoA dehydrogenase results in accumulation of the putatively neurotoxic metabolites glutaric and 3-hydroxyglutaric acid (GA, 3-OH-GA) in body tissues, particularly within the brain. Here we presented a 3-yea...

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Bibliographic Details
Main Authors: Ebru Canda, Havva Yazıcı, Esra Er, Cenk Eraslan, Yasemin Atik Altınok, Hepsen Mine Serin, Sara Habif, Gül Serdaroğlu, Sema Kalkan Uçar, Hüseyin Onay, Ferda Özkınay, Mahmut Çoker
Format: Article
Language:English
Published: Galenos Yayinevi 2018-03-01
Series:Journal of Pediatric Research
Subjects:
Glutaric acid
glutaryl carnitine
dystonia
Online Access: http://jpedres.org/archives/archive-detail/article-preview/glutaric-aciduria-type--diagnosis-case-with-normal/18791

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