New Pathogenic Homozygous Variant in (DGOUK) Gene Cause Vital Progressive Liver Failure in a Neonate: Case Report

Abstract

Many heterogeneous groups of mitochondrial diseases of infants can lead to which called “Mitochondrial DNA depletion syndromes” (MDS), which mainly caused by reduction in the number of mtDNA and lead to impaired in the synthesis of respiratory chain complexes. It is inherited in mendelian fashion and it can be dominant or recessive traits. MDS is described first in 2001 by Mandel, he has been classified it into 2 groups; the hepatocerebral form which affecting the liver with central nervous systems, and the myopathic form, which affecting the skeletal muscle. Recently, there are three well-established forms known of MDS, by adding one more form to the previous classification; the encephalomyopathic form. Her we present a case of 3-month-old baby with a new homozygous variant c.763_766dup p. (Phe256*) discovered in DGUOK (OMIM:601465).