Newborn genetic screening assists in identifying the risk of
having rare and serious medical conditions that can affect
normal development so that preventable developmental
delay, disability, morbidity, and mortality during infancy
and childhood can be avoided [1].
Mitochondrial DNA maintenance defects (MDMDs)
are a group of diseases, characterized by mtDNA depletion
and/or multiple mtDNA deletions resulting from impaired
mtDNA synthesis which is associated with pathogenic
variants in the nuclear genes involved in mtDNA synthesis,
mitochondrial nucleotide supply, or mitochondrial dynamics
[2]. MPV17 gene encodes a mitochondrial inner membrane
protein that plays an important role in mitochondrial deoxynucleotide
homeostasis and maintenance of mtDNA [3].
MPV17-related Mitochondrial DNA depletion syndrome-6
(MTDPS6) is a rare autosomal recessive disorder characterized
by the early onset of progressive liver failure, resulting
in neonatal death within the first year of life [2].
Here we present a case of a newborn detected with MPV17 gene variant in a newborn genetic screening before the onset of symptoms which helped in early medical intervention.
