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J Pediatr Genet 2017; 06(03): 142-148
DOI: 10.1055/s-0037-1599202
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I

Kruthika-Vinod TP
1   Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
,
Shaik Muntaj
1   Department of Neurochemistry, National Institute of Mental Health and Neurosciences, Bengaluru, Karnataka, India
,
K. S. Devaraju
2   Department of Biochemistry, Karnataka University, Dharwad, Karnataka, India
,
M. Kamate
3   Department of Pediatrics, Jawaharlal Nehru Medical College, KLE University, Belgaum, Karnataka, India
,
A. B. Vedamurthy
4   Department of Biotechnology and Microbiology, Karnataka University, Dharwad, Karnataka, India
› Author Affiliations
Further Information

Publication History

20 October 2016

24 January 2017

Publication Date:
07 March 2017 (online)

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Abstract

Glutaric aciduria type I (GA-I) is an organic aciduria caused by glutaryl-CoA dehydrogenase (GCDH) deficiency. There are limited studies on GA-I from India. A total of 48 Indian GA-I patients were screened for selected disease-causing mutations such as R402W, A421V, A293T, R227P, and V400M using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Among these patients, 9 (18.8%) had R402W mutation, and none had A421V, A293T, R227P, or V400M mutation. One low excretor mutation (P286S) and several novel mutations (I152M, Q144P, and E414X) were also found in this study. We conclude that among selected mutations, R402W is the most common mutation found among Indian GA-I patients.

Keywords

genotyping - glutaric aciduria type I - glutaryl-CoA dehydrogenase
 

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