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:
- 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
A mutation in your POLG1 gene can impair the function of an enzyme called polymerase gamma. This enzyme is required for your mitochondria to
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
Other symptoms that may develop include:
- loss of vision
- loss of cognitive ability (dementia)
- abnormal muscle tone or stiffness
- infection-associated encephalopathy, which leads to altered brain function
- language delays
- loss of speech
In one 2021
All 22 people experienced seizures. Seizures in all but one of these children didn’t respond to medications.
In more than
An abnormal POLG1 gene leads to the progressive death of mitochondria and eventually the death of your child’s cells, especially your their
- progressive external ophthalmoplegia
- myoclonic epilepsy myopathy sensory ataxia
- childhood myocerebrohepatopathy spectrum
- ataxia neuropathy spectrum
Mutations in the following
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.
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
- a genetic test
- a liver biopsy
- an autopsy
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
- posterior cortical structures
- 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:
- antiseizure drugs to reduce seizures
- physical therapy or occupational therapy to relieve muscular symptoms
- a gastrostomy feeding tube to help with nutrition
- eating smaller but more frequent meals to help with nutrition
- long-term lung support with mechanical ventilation
- pain medications and muscle relaxants as needed
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.