In 1991, Moraes CT et al. identified a novel syndrome while examining two related infants who suffered from a fatal mitochondrial disorder, one with primary involvement of the muscle and the other with liver dysfunction (Moraes et al. 1991). Mitochondrial DNA (mtDNA) depletion syndromes (MTDPS) represented a group of genetic conditions characterized by reduction in mtDNA content within affected tissues and organs (Suomalainen and Isohanni 2010). Clinically, MTDPS are typically divided into four distinct types: a myopathic variant (low muscle tone, general muscle weakness, bulbar impairment), encephalomyopathic type (muscle weakness, hypotonia, psychomotor delay), a hepatocerebral form (liver dysfunction, delayed psychomotor development), and a neurogastrointestinal type (digestive tract motility issues, peripheral nerve damage). Other recognized presentations include fatal infantile lactic acidosis with methylmalonic aciduria, early onset spastic ataxia-neuropathy syndrome, and Alpers syndrome (Suomalainen and Isohanni 2010; Spinazzola 2011; El-Hattab and Scaglia 2013). Incidence and prevalence of this syndrome are unknown and the clinical manifestations can present at any age of life (Wong et al. 2023).