![](/images/graphics-bg.png)
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1
Joint Authors
Abdul Wahab, Siti Aishah
Abdul Azize, Nor Azimah
Md Yunus, Zabedah
Huey Yin, Leong
Mohd Khalid, Mohd Khairul Nizam
Lock Hock, Ngu
Yakob, Yusnita
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-09-08
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Glutaric aciduria type 1 (GA1) is an autosomal recessive metabolic disorder caused by deficiency of glutaryl-CoA dehydrogenase enzyme encoded by the GCDH gene.
In this study, we presented the clinical and molecular findings of seven GA1 patients in Malaysia.
All the patients were symptomatic from infancy and diagnosed clinically from large excretion of glutaric and 3-hydroxyglutaric acids.
Bidirectional sequencing of the GCDH gene revealed ten mutations, three of which were novel (Gln76Pro, Glu131Val, and Gly390Trp).
The spectrum of mutations included eight missense mutations, a nonsense mutation, and a splice site mutation.
Two mutations (Gln76Pro and Arg386Gln) were homozygous in two patients with parental consanguinity.
All mutations were predicted to be disease causing by MutationTaster2.
In conclusion, this is the first report of both clinical and molecular aspects of GA1 in Malaysian patients.
Despite the lack of genotype and phenotype correlation, early diagnosis and timely treatment remained the most important determinant of patient outcome.
American Psychological Association (APA)
Abdul Wahab, Siti Aishah& Yakob, Yusnita& Abdul Azize, Nor Azimah& Md Yunus, Zabedah& Huey Yin, Leong& Mohd Khalid, Mohd Khairul Nizam…[et al.]. 2016. Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. BioMed Research International،Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1097634
Modern Language Association (MLA)
Abdul Wahab, Siti Aishah…[et al.]. Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. BioMed Research International No. 2016 (2016), pp.1-5.
https://search.emarefa.net/detail/BIM-1097634
American Medical Association (AMA)
Abdul Wahab, Siti Aishah& Yakob, Yusnita& Abdul Azize, Nor Azimah& Md Yunus, Zabedah& Huey Yin, Leong& Mohd Khalid, Mohd Khairul Nizam…[et al.]. Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. BioMed Research International. 2016. Vol. 2016, no. 2016, pp.1-5.
https://search.emarefa.net/detail/BIM-1097634
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1097634