EJMCR. 2017; 1(January 2017): 14-18

A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report

Authors: Ahlam Abed Alrhman Ahmed Hamed, Maha Abd El Moneim Elseed, Inaam Noureldyme Mohmed Masoud, Kanay Yararbas, Mohamed Osman Eltahir Babiker.

ABSTRACT

Background: Glutaric aciduria type 1 (GA1) is a rare autosomal recessive neurometabolic disorder caused by mutations in the glutaryl-CoA dehydrogenase gene (GCDH). If left untreated, it leads to accumulation of neurotoxic metabolites leading to poor neurological outcomes characterized by encephalopathic crises, subdural effusions and extrapyramidal features. Case presentation: We hereby report a consanguineous Sudanese family in which the father and two children were affected whilst the mother was an asymptomatic carrier. All had a novel guanine insertion in position c.1173_1174 (c.1173dupG), resulting in a frameshift and a stop codon downstream (p.Asn392Glufs4X). Conclusion: To our knowledge, this GCDH variant has not been previously reported. Genetic testing should be made widely available in communities where consanguinity is prevalent. This will allow detection of new pathogenic gene variants.

Keywords:
Glutaric aciduria type 1, GCDH gene, variant, Sudanese, consanguinity, case report


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A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report


Authors
Ahlam Abed Alrhman Ahmed Hamed

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Maha Abd El Moneim Elseed

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Inaam Noureldyme Mohmed Masoud

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Kanay Yararbas

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Mohamed Osman Eltahir Babiker

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Correspondence to:
. Department of Pediatrics and Child Health, Faculty of Medicine, University of Khartoum and Soba University Hospital, Khartoum, Sudan;

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Pubmed Style

Ahlam Abed Alrhman Ahmed Hamed , Maha Abd El Moneim Elseed, Inaam Noureldyme Mohmed Masoud, Kanay Yararbas, Mohamed Osman Eltahir Babiker. A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report. EJMCR. 2017; 1(January 2017): 14-18. doi:10.24911/ejmcr/1/4


Web Style

Ahlam Abed Alrhman Ahmed Hamed , Maha Abd El Moneim Elseed, Inaam Noureldyme Mohmed Masoud, Kanay Yararbas, Mohamed Osman Eltahir Babiker. A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report. http://www.ejmcr.com/?mno=267638 [Access: November 21, 2018]. doi:10.24911/ejmcr/1/4


AMA (American Medical Association) Style

Ahlam Abed Alrhman Ahmed Hamed , Maha Abd El Moneim Elseed, Inaam Noureldyme Mohmed Masoud, Kanay Yararbas, Mohamed Osman Eltahir Babiker. A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report. EJMCR. 2017; 1(January 2017): 14-18. doi:10.24911/ejmcr/1/4


Vancouver/ICMJE Style

Ahlam Abed Alrhman Ahmed Hamed , Maha Abd El Moneim Elseed, Inaam Noureldyme Mohmed Masoud, Kanay Yararbas, Mohamed Osman Eltahir Babiker. A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report. EJMCR. (2017), [cited November 21, 2018]; 1(January 2017): 14-18. doi:10.24911/ejmcr/1/4


Harvard Style

Ahlam Abed Alrhman Ahmed Hamed , Maha Abd El Moneim Elseed, Inaam Noureldyme Mohmed Masoud, Kanay Yararbas, Mohamed Osman Eltahir Babiker (2017) A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report. EJMCR, 1 (January 2017), 14-18. doi:10.24911/ejmcr/1/4


Turabian Style

Ahlam Abed Alrhman Ahmed Hamed , Maha Abd El Moneim Elseed, Inaam Noureldyme Mohmed Masoud, Kanay Yararbas, Mohamed Osman Eltahir Babiker. 2017. A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report. European Journal of Medical Case Reports, 1 (January 2017), 14-18. doi:10.24911/ejmcr/1/4


Chicago Style

Ahlam Abed Alrhman Ahmed Hamed , Maha Abd El Moneim Elseed, Inaam Noureldyme Mohmed Masoud, Kanay Yararbas, Mohamed Osman Eltahir Babiker. "A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report." European Journal of Medical Case Reports 1 (2017), 14-18. doi:10.24911/ejmcr/1/4


MLA (The Modern Language Association) Style

Ahlam Abed Alrhman Ahmed Hamed , Maha Abd El Moneim Elseed, Inaam Noureldyme Mohmed Masoud, Kanay Yararbas, Mohamed Osman Eltahir Babiker. "A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report." European Journal of Medical Case Reports 1.January 2017 (2017), 14-18. Print. doi:10.24911/ejmcr/1/4


APA (American Psychological Association) Style

Ahlam Abed Alrhman Ahmed Hamed , Maha Abd El Moneim Elseed, Inaam Noureldyme Mohmed Masoud, Kanay Yararbas, Mohamed Osman Eltahir Babiker (2017) A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report. European Journal of Medical Case Reports, 1 (January 2017), 14-18. doi:10.24911/ejmcr/1/4


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