Clinical and Metabolic Profile of Glutaric Aciduria Type 1 from North India: Tertiary Centre Experience

Introduction: Glutaric aciduria type 1 is caused by deficiency of glutaryl-CoA dehydogenase leading to accumulation of glutarylcarnitine in blood and excretion of glutaric acid, 3-hyroxyglutaric acid and glutaconic acid in urine. It can be diagnosed through high risk screening in symptomatic cas...

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Bibliographic Details
Main Authors:	Ankur Singh, Rajniti Prasad, Seema Kapoor, Om Prakash Mishra
Format:	Article
Language:	English
Published:	JCDR Research and Publications Private Limited 2017-11-01
Series:	Journal of Clinical and Diagnostic Research
Subjects:	glutaryl-coa dehydrogenase gene glutaryl-coa dehydrogenase/deficiency metabolic brain diseases
Online Access:	https://jcdr.net/articles/PDF/10834/30976_121017_30976_CE(RA1)_F(T)_PF1(AA_GG)_PFA(MJ_GG).pdf

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