Article
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases.
Molecular genetics & genomic medicine - 1 Jul 2024
Seyedtaghia Mohammad Reza, Jafarzadeh-Esfehani Reza, Hosseini Seyedmojtaba, Kobravi Sepehr, Hakkaki Mahdis, Nilipour Yalda
Abstract excerpt
BACKGROUND: Glutaric aciduria type II (GA2) is a rare genetic disorder inherited in an autosomal recessive manner. Double dosage mutations in GA2 corresponding genes, ETFDH, ETFA, and ETFB, lead to defects in the catabolism of fatty acids, and amino acids lead to broad-spectrum phenotypes, including muscle weakness, developmental delay, and seizures. product of these three genes have crucial role in transferring...
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