hepatocerebral mitochondrial DNA depletion syndrome (ARHCMDS)

Introduction

clinically heterogeneous group of disorders

Pathology

• may affect single organs, typically muscle or liver, or multiple tissues
• increased lactate in body fluids

Genetics

• associated with defects in MPV17, DGUOK, or C10ORF2
• reduction in mitochondrial DNA (mtDNA) copy number
• primary mtDNA depletion is inherited as an autosomal recessive trait

Clinical manifestations

• early progressive liver failure & neurologic abnormalities

Laboratory

• serum glucose: hypoglycemia

More general terms

• genetic syndrome (multisystem disorder)
• mitochondrial disease

Database

• OMIM: https://mirror.omim.org/entry/251880