Alpers disease is a rare but severe genetic condition that can lead to seizures, loss of mental ability, and liver failure. Few people with Alpers disease live into adulthood.

Alpers disease is also called Alpers syndrome or Alpers-Huttenlocher syndrome. It’s characterized by the loss of a key enzyme required by the DNA of your mitochondria. Your mitochondria produce most of the energy your cells require to live.

Alpers disease primarily affects your child’s brain and liver due to the high energy requirements of these organs. Characteristic symptoms include:

  • seizures
  • loss of cognitive ability
  • liver failure

Keep reading to learn more about Alpers disease, including why it develops, its symptoms, and how it’s managed.

Alpers disease is a progressive genetic disorder usually caused by a mutation in the POLG1 gene. It affects approximately 1 in 100,000 children. Males and females are affected about equally.

A mutation in your POLG1 gene can impair the function of an enzyme called polymerase gamma. This enzyme is required for your mitochondria to replicate and repair their DNA. Without it, your child’s mitochondria and cells die.

Alpers disease primarily affects child’s brain and liver since these two organs require the most energy in their body. Your brain and liver both use about 20% of the total energy your body burns at rest.

Alpers disease classically develops in children between 2–4 years old. Most children pass away within 4 years of developing symptoms. The cause of death is usually status epilepticus or liver failure. Status epilepticus is a prolonged seizure that lasts longer than 5 minutes or a series of seizures that last longer than 5 minutes.

About 80% of children develop Alpers disease symptoms before 2 years of age. The remainder of people develop symptoms between 2–25 years of age. Most people who don’t develop symptoms as an infant develop them in adolescence.

The first symptom of Alpers disease is often the sudden development of seizures that don’t respond to medications in a child who is otherwise healthy and developing normally.

Seizures often start as focal motor seizures or myoclonus. Myoclonus is a sudden and brief involuntary muscle twitch. Focal motor seizures cause jerking body movements on one side.

Other symptoms that may develop include:

In one 2021 review, researchers in China found that 6 out of 22 children with Alpers disease had developmental delays before the onset of seizures. One person had severe intellectual disability.

All 22 people experienced seizures. Seizures in all but one of these children didn’t respond to medications.

In more than 90% of people with Alpers disease, the disorder is thought to be caused by a recessive mutation found on the gene POLG1. You need to receive this mutation from both parents to develop Alpers disease.

An abnormal POLG1 gene leads to the progressive death of mitochondria and eventually the death of your child’s cells, especially your their brain and liver cells.

Other mitochondrial disorders linked to mutations in this gene include:

  • progressive external ophthalmoplegia
  • parkinsonism
  • myoclonic epilepsy myopathy sensory ataxia
  • childhood myocerebrohepatopathy spectrum
  • ataxia neuropathy spectrum

Mutations in the following genes might also be linked to Alpers disease less commonly:

  • PARS2
  • FARS2
  • NARS2
  • GABRB2

Alpers disease vs amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS), or Lou Gehrig disease, is another progressive neurological disorder. It’s characterized by the progressive death of cells that control voluntary muscle movement and breathing.

Unlike Alpers disease, ALS usually develops between 55–75 years of age. It occurs in about 1.5–3 people per 100,000.

Learn more about ALS here.

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Doctors usually diagnose Alpers disease in infancy by looking for characteristic signs and symptoms and performing a blood test to look for gene mutations associated with Alpers disease. A diagnosis can be confirmed with:

A test called an electroencephalography (EEG) can measure your child’s brain activity. A certain pattern called rhythmic high-amplitude delta with superimposed polyspikes is a characteristic finding of Alpers disease.

Magnetic resonance imaging (MRI) can support the diagnosis by showing changes to gray matter in your child’s:

  • posterior cortical structures
  • thalamus
  • occipital cortex, which processes visual information and has the highest energy consumption of any part of your brain

There’s no current treatment for Alpers disease and no way to slow it down. Treatment revolves around reducing your child’s symptoms and may include:

Finding out that your child has Alpers disease can be extremely difficult since it means they likely won’t survive into adulthood.

Enrolling your loved one in a clinical trial can help researchers improve their understanding of Alpers disease and move them closer to developing a cure. You can find a list of current clinical trials from the National Library of Medicine database.

The United Mitochondrial Disease Foundation has a support line available to answer any questions you may have about Alpers disease. They also encourage jointing their mitoSHARE registry to help advance scientific research.

Alpers disease is a rare genetic disorder that causes malfunction of your child’s mitochondria. It primarily causes symptoms that affect your child’s liver and brain. Most people pass away within 4 years due to liver failure or prolonged seizures.

Alpers disease doesn’t have a cure, and treatment revolves around managing your child’s symptoms. A doctor can help you find ways to make your child more comfortable.