A Rare Case of Pediatric Hepatocellular Carcinoma Secondary to Mitochondrial DNA Depletion Syndrome Type 3 ( DGUOK Mutation) | Synapse
March 18, 2026
A Rare Case of Pediatric Hepatocellular Carcinoma Secondary to Mitochondrial DNA Depletion Syndrome Type 3 ( DGUOK Mutation)
Key Points
This case report aims to describe a rare instance of pediatric hepatocellular carcinoma associated with mitochondrial DNA depletion syndrome due to a DGUOK mutation.
Case report of a pediatric patient with diagnosed hepatocellular carcinoma
Genetic testing to identify the DGUOK mutation
Clinical observation of tumor development and progression
Identification of hepatocellular carcinoma in a child with mitochondrial DNA depletion syndrome
Confirmation of DGUOK mutation as a contributing factor to carcinogenesis
Documentation of clinical outcomes and treatment responses