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