Alpers syndrome

What is Alpers syndrome?

Alpers syndrome is a mitochondrial disease that primarily affects the brain, vision, muscles, and liver. It goes by many names, including Alpers disease and Alpers-Huttenlocher syndrome (AHS). The disorder is very rare, affecting an estimated 1 in 40,000 individuals[1].

The onset of Alpers syndrome typically occurs between the ages of 2 and 4 years[2]. However, there is a milder variation of the disease that may not present until between 17 and 24 years of age[1]. The disorder can rapidly lead to fatal brain disease and liver failure. As such, some individuals with Alpers syndrome typically survive less than 4 years after symptoms emerge[3].

Medical research has not yet found a way of curing or slowing Alpers syndrome. However, treatments are available that can help with symptom management.

What causes Alpers syndrome?

Alpers syndrome is caused by a pair of   mutations in the POLG1 gene[4]. These mutations compromise mitochondrial DNA maintenance, resulting in a reduction in the amount of mitochondrial DNA present and/or the occurrence of increasing mutations within the mtDNA itself in the cell[5].

What are the symptoms of Alpers syndrome?

The defining symptoms of Alpers syndrome are[1]:

  • Seizures; typically epilepsia partialis continua or status epilepticus
  • developmental regression
  • liver damage

Other symptoms include[6,7]:

  • headaches
  • ptosis and loss of eye movement
  • impaired balance or coordination
  • decreased muscle tone
  • spasticity
  • disordered movement
  • vision loss
  • cognitive impairment
  • anxiety
  • depression
  • hypoglycemia
  • failure to thrive

How do I know if my loved one has Alpers syndrome?

If your loved one has symptoms of Alpers syndrome, their healthcare provider will look for mutations in the POLG1 gene to establish a diagnosis. They may also perform a liver biopsy[2].

What are the treatments for Alpers syndrome?

Treatments for Alpers syndrome are directed at disease symptoms and may consist of[2]:

  • anticonvulsant medications for seizures (although valproate should be avoided)
  • pain medication and muscle relaxants for comfort
  • feeding tube for nutritional support
  • physical therapy for declining motor skills and muscle strength

Because Alpers syndrome is an inherited disorder, genetic counseling for the family may also be recommended.


Are there any clinical trials for Alpers syndrome?

To see what trials you may qualify for, visit our Clinical Trials page – which also included a Clinical Trials Finder Tool. We also highly encourage you to join our patient registry, mitoSHARE, where we are actively recruiting Alpers families.

How can my family cope with Alpers syndrome?

We are here to help. UMDF serves a number of families coping with Alpers syndrome. We suggest you reach out to our Support & Education Team – online, via email at or phone at (888) 900-6486 – who can suggest a host of resources including doctors, disease specific support meetings, and more. They’ll also connect you with a UMDF ambassador, likely a fellow Alpers patient or family member, who can help support and guide you through your questions.


What are the next steps if my loved one has Alpers syndrome?

  • Get Support
    Connect with our Support & Education Team online, via email at or phone at (888) 900-6486.
  • Join our patient registry, mitoSHARE
    We are actively recruiting Alpers syndrome families to participate in our patient registry, mitoSHARE. Patient registries like mitoSHARE are an integral part in charting a course toward treatments and cures for Alpers syndrome and other mitochondrial diseases. There are currently over 30 active mitochondrial disease clinical trials. Next generation patient registries like mitoSHARE are an integral part of expanding that number.
  • Become an advocate
    Ask your representatives to prioritize mitochondrial disease research and support via the UMDF Advocacy Center. We’ll send regular action items where you – and your friends and family – can let Congress know we need their support. Click here to sign up.

What is UMDF doing about Alpers syndrome?

UMDF is helping chart a path toward treatments and eventual cure of mitochondrial diseases like Alpers syndrome through:

  • Research & Funding: UMDF has provided more than $15 million in research funding to find treatments for diseases like Alpers syndrome. UMDF advocacy has helped secure an additional $55 million in federal funding via the Department of Defense and National Institutes of Health.
  • Data: Over two decades ago, UMDF pioneered patient registries for the mitochondrial disease community. Today, our next generation patient registry, mitoSHARE, is helping chart a path toward the treatment and eventual cure of mitochondrial diseases.
  • Patient Support: Thousands of families just like you depend upon UMDF for support and education. Attendance at our support meetings annually tops 7,000, including disease specific support meetings for families.
  • Clinician Support: To help educate clinicians on diseases like Alpers syndrome, we feature monthly Bench to Bedside clinician seminars, host the annual Mitochondrial Medicine Symposium, support the Mitochondrial Care Network, and educate clinicians on our Mito U platform.

I didn’t find what I’m looking for here. What should I do?

UMDF is here to help. Contact the Support Line at (888) 900-6486 weekdays from 8:00am to 5:00pm EST to connect with our Patient Concierge. Or, via email contact


  1. Saneto RP, Cohen BH, Copeland WC, Naviaux RK. Alpers-Huttenlocher syndrome. Pediatr Neurol. 2013;48(3):167-178. doi:10.1016/j.pediatrneurol.2012.09.014
  1. Rose HR, Al Khalili Y. Alpers-Huttenlocher Syndrome. [Updated 2022 Aug 22]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from:
  1. Park S, Kang HC, Lee JS, Park YN, Kim S, Koh H. Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?. Pediatr Gastroenterol Hepatol Nutr. 2017;20(4):259-262. doi:10.5223/pghn.2017.20.4.259
  1. Qian Y, Ziehr JL, Johnson KA. Alpers disease mutations in human DNA polymerase gamma cause catalytic defects in mitochondrial DNA replication by distinct mechanisms. Front Genet. 2015;6:135. Published 2015 Apr 9. doi:10.3389/fgene.2015.00135
  1. Copeland WC. Defects in mitochondrial DNA replication and human disease. Crit Rev Biochem Mol Biol. 2012;47(1):64-74. doi:10.3109/10409238.2011.632763
  1. Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16 [Updated 2018 Mar 1]. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from:
  1. Saneto RP. Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team. J Multidiscip Healthc. 2016;9:323-333. Published 2016 Jul 26. doi:10.2147/JMDH.S84900