Diverse presentation of hepatocerebral type of mitochondrial DNA depletion syndromes- a brief report

Background and Aim: Mitochondria are essential organelles found in almost all eukaryotic cells, it is for the production of adenosine triphosphate (ATP), energy source cellular activities. There nine genetic mutations known to cause mitochondrial DNA depletion syndrome (MDS). It further sub-categorised into four clinical forms i) hepato-cerebral, associated with DGUOK, POLG, MPV17, or C10orf2 ii) myopathic, TK2 iii) encephalo-myopathic, RRM2B, SUCLA2 SUCLG1 iv) neuro-gastrointestinal, TYMP. syndromic presentations: Alpers-Huttenlocher (AHS), infantile-onset spinocerebellar ataxia (IOSCA), neuro-gastrointestinal encephalo-myopathy (MNGIE), recessive (MIRAS). However, this descriptive study, we highlight presentation hepato-cerebral type MDS children our approach management. The aim study characteristics hepatocerebral their outcome. Case Report: This a diagnosed on whole genome sequencing. Herein, have described these at time first presentation, in-depth workup initial final diagnosis. All blood investigations, scans, testing, invasive procedures been documented. We highlighted planned treatment, outcomes, prognosis. Conclusion: Unfortunately, three succumbed death despite supplementation nutritional changes. Liver transplants hematopoietic stem cell transplant had patients. surviving child regular OPD-based follow-ups.