Novel mutations of the glutaryl-CoA dehydrogenase gene in two Japanese patients with glutaric aciduria type I

1998 ◽  
Vol 80 (4) ◽  
pp. 327-329 ◽  
Author(s):  
Hiroyuki lkeda ◽  
Toshiyuki Kimura ◽  
Tohru Ikegami ◽  
Mitsuhiro Kato ◽  
Akira Matsunaga ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Novel Mutations ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Dehydrogenase Gene

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I

1998 ◽  
Vol 102 (4) ◽  
pp. 452-458 ◽  
Author(s):  
M. Schwartz ◽  
Ernst Christensen ◽  
Andrea Superti-Furga ◽  
Niels Jacob Brandt
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Novel Mutations ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Dehydrogenase Gene

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

2017 ◽  
Vol 06 (03) ◽  
pp. 142-148 ◽  
Author(s):  
Shaik Muntaj ◽  
K. Devaraju ◽  
M. Kamate ◽  
A. Vedamurthy ◽  
Kruthika-Vinod TP
Keyword(s):  
Fragment Length Polymorphism ◽  
Glutaric Aciduria Type ◽  
Organic Aciduria ◽  
Common Mutation ◽  
Type I ◽  
Novel Mutations ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Dehydrogenase Gene ◽  
Polymerase Chain

AbstractGlutaric 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.

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors

2016 ◽  
Vol 119 (1-2) ◽  
pp. 50-56 ◽  
Author(s):  
Lori-Anne P. Schillaci ◽  
Carol L. Greene ◽  
Erin Strovel ◽  
Jessica Rispoli-Joines ◽  
Elaine Spector ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Dehydrogenase Gene ◽  
Important Marker

Molecular analysis of Cypriot patients with Glutaric aciduria type I: Identification of two novel mutations

2014 ◽  
Vol 47 (13-14) ◽  
pp. 1300-1305 ◽  
Author(s):  
Theodoros Georgiou ◽  
Paola Nicolaidou ◽  
Anastasia Hadjichristou ◽  
Rodothea Ioannou ◽  
Maria Dionysiou ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Novel Mutations ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I – Study from South India

2016 ◽  
Vol 38 (1) ◽  
pp. 54-60 ◽  
Author(s):  
A. Radha Rama Devi ◽  
Vakkalagadda A. Ramesh ◽  
H.A. Nagarajaram ◽  
S.P.S. Satish ◽  
U. Jayanthi ◽  
...  
Keyword(s):  
South India ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I ◽  
Dehydrogenase Gene

Neuroradiological Findings in Glutaric Aciduria Type I: Report of Four Japanese Patients

1992 ◽  
Vol 34 (4) ◽  
pp. 409-415 ◽  
Author(s):  
Hiroyuki Nagasawa ◽  
Seiji Yamaguchi ◽  
Yasuyuki Suzuki ◽  
Masanori Kobayashi ◽  
Yoshiro Wada ◽  
...  
Keyword(s):  
Japanese Patients ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I

Use of guidelines improves the neurological outcome in glutaric aciduria type I

2010 ◽  
Vol 41 (02) ◽  
Author(s):  
J Heringer ◽  
SPN Boy ◽  
R Ensenauer ◽  
B Assmann ◽  
J Zschocke ◽  
...  
Keyword(s):  
Neurological Outcome ◽  
Glutaric Aciduria Type ◽  
Type I ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type I
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