Case Report

Volume: 1 | Issue: 1 | Published: May 24, 2017 | Pages: 14 - 18 | DOI: 10.24911/ejmcr/1/4

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


Article Info

Authors

Ahlam Abed Alrhman Ahmed Hamed

Department of Paediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan

Maha Abd El Moneim Elseed

Department of Paediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan

Inaam Noureldyme Mohmed Masoud

Department of Paediatrics and Child Health, Faculty of Medicine, University of Khartoum, Khartoum, Sudan

Kanay Yararbas

Duzen Laboratories Group, Center of Genetic Diagnosis, Istanbul, Turkey.

Mohamed Osman Eltahir Babiker

Department of Paediatric Neurology, Bristol Royal Hospital for Children, Bristol, United Kingdom.

Publication History

Received: May 24, 2017

Accepted: January 01, 1970

Published: May 24, 2017


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, green


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; 24 (May 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. https://ejmcr.com/articles/1542 [Access: December 25, 2024]. 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; 24 (May 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 December 25, 2024]; 24 (May 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, 24 (May 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." 24 (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." 24.May 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. , 24 (May 2017), 14-18. doi:10.24911/ejmcr/1/4