JBCGenetics |

Review Article

Volume: 2 | Issue: 1 | Published: Jan 01, 2019 | Pages: 40 - 53 | DOI: 10.24911/JBCGenetics/183-1543842430

Glutaric aciduria type 1: a review of phenotypic and genetic characteristics

Authors: HoorAl Jandal , HoorAl Jandal , Abdul AliPeer-Zada

Article Info

Authors

HoorAl Jandal

Department of Pediatrics, Medical Genetics Section, King Fahad Medical City, Riyadh, Saudi Arabia

HoorAl Jandal

Department of Pediatrics, Medical Genetics Section, King Fahad Medical City, Riyadh, Saudi Arabia

Abdul AliPeer-Zada

Molecular Pathology (Genetics)Section, Pathology and Clinical Laboratory Medicine Administration, King Fahad Medical City, Riyadh, Saudi Arabia

Publication History

Received: March 26, 2019

Revised: April 18, 2019

Accepted: May 01, 2019

Published: January 01, 2019

Abstract

Glutaric aciduria type I (GA1) is an inherited metabolic disorder in which excessive levels of the amino acids lysine, hydroxylysine, and tryptophan accumulate in the body as a result of defective glutaryl-CoA dehydrogenase (GCDH) enzyme activity. Excessive metabolites are toxic that can cause damage to the brain, particularly due to the occurrence of basal ganglia and intellectual disability. Missense, splicing, and other deletion mutations in GCDH gene lead to the deficiency of the enzyme activity and are known to cause GA1. The severity of GA1 along with its neurological manifestations and clinical outcome is dependent upon the age at onset and therefore, early definitive diagnosis of GA1 becomes essential. GA1 occurs in approximately 1 of every 30,000-40,000 individuals worldwide that may reach up to 1 in 300 newborn babies in the Amish and Canadian communities. Owing to very high consanguinity rates in Saudi Arabia, it is presumed to be much more common in the Kingdom and is one of the initial disorders that were included in the country's neonatal screening program. In the current study, we have reviewed clinical manifestations, diagnosis, updated management, and mutation spectrum in GA1 with an example of one of our patients with GA1, and highlighted the importance of multipara-metric strategy in the early diagnosis and management of the disease.

Keywords: Glutaric aciduria, GCDH gene, magnetic resonance imaging, carnitine, baclofen

Pubmed Style

HoorAl Jandal, HoorAl Jandal, Abdul AliPeer-Zada. Glutaric aciduria type 1: a review of phenotypic and genetic characteristics. JBC Genetics. 2019; 01 (January 2019): 40-53. doi:10.24911/JBCGenetics/183-1543842430

Web Style

HoorAl Jandal, HoorAl Jandal, Abdul AliPeer-Zada. Glutaric aciduria type 1: a review of phenotypic and genetic characteristics. https://www.jbcgenetics.com/articles/2169 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1543842430

AMA (American Medical Association) Style

Vancouver/ICMJE Style

HoorAl Jandal, HoorAl Jandal, Abdul AliPeer-Zada. Glutaric aciduria type 1: a review of phenotypic and genetic characteristics. JBC Genetics. (2019), [cited April 27, 2025]; 01 (January 2019): 40-53. doi:10.24911/JBCGenetics/183-1543842430

Harvard Style

HoorAl Jandal, HoorAl Jandal, Abdul AliPeer-Zada (2019) Glutaric aciduria type 1: a review of phenotypic and genetic characteristics. JBC Genetics, 01 (January 2019): 40-53. doi:10.24911/JBCGenetics/183-1543842430

Chicago Style

HoorAl Jandal, HoorAl Jandal, Abdul AliPeer-Zada. "Glutaric aciduria type 1: a review of phenotypic and genetic characteristics." 01 (2019), 40-53. doi:10.24911/JBCGenetics/183-1543842430

MLA (The Modern Language Association) Style

HoorAl Jandal, HoorAl Jandal, Abdul AliPeer-Zada. "Glutaric aciduria type 1: a review of phenotypic and genetic characteristics." 01.January 2019 (2019), 40-53. Print. doi:10.24911/JBCGenetics/183-1543842430

APA (American Psychological Association) Style

HoorAl Jandal, HoorAl Jandal, Abdul AliPeer-Zada (2019) Glutaric aciduria type 1: a review of phenotypic and genetic characteristics. , 01 (January 2019), 40-53. doi:10.24911/JBCGenetics/183-1543842430