Neurology · Neurology / Mitochondrial disease; Pediatric neurology
Alpers–Huttenlocher syndrome
also: Alpers syndrome; POLG-related encephalopathy
Mitochondrial DNA depletion syndrome with refractory seizures and liver failure.
- 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
- Alternative names & eponyms
- Alpers syndrome; POLG-related encephalopathy
Etiology & mechanism
POLG mutations impair mtDNA replication; valproate triggers liver failure.
Gene(s) involved (4)
Symptoms & signs (4)
In plain terms, someone with Alpers–Huttenlocher syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
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