Alpers–Huttenlocher syndrome

Also known as: Alpers syndrome; POLG-related encephalopathy

Mitochondrial DNA depletion syndrome with refractory seizures and liver failure.

Medical specialty: Neurology
Subspecialty: Neurology / Mitochondrial disease; Pediatric neurology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, onset in infancy to early childhood
Gene(s) involved: FARS2, NARS2, POLG, TWNK

Etiology & mechanism

POLG mutations impair mtDNA replication; valproate triggers liver failure.

Gene(s) involved (4)

FARS2NARS2POLGTWNK

Symptoms & signs (4)

intractable seizuresliver failurepsychomotor regressionstatus epilepticus

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