What is Alpers disease?
Alpers disease is a mitochondrial disease that affects the brain and liver. Mitochondria work as tiny batteries within cells providing them with energy. Cells cannot function properly without this energy supply and in the case of Alpers disease this leads to severe epilepsy, loss of developmental skills and liver failure.
How common is Alpers disease?
Alpers syndrome is a rare condition that generally affects young children (6 months to 3 years), but some older children and young adults may be affected by severe epilepsy and liver disease due to a defect in the same gene that causes Alpers. Please discuss with your doctor for further information.
What are the symptoms of Alpers disease?
The common symptoms of Alpers disease are:
- Memory loss, dementia
- Liver disease: Jaundice and cirrhosis (liver failure)
- Balance and coordination issues, involuntary twitches
- Reflex-related problems
- Hypotonia (weak muscle tone)
- Speech abnormalities
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Alpers disease?
Alpers’ Disease is caused by mutations in the POLG polymerase gene. This polymerase aids in the production of mitochondrial DNA, which codes for the production of mitochondria
Mitochondria are important for energy production in the body cells; they are the primary source of energy for the body’s cells. In particular, they are important in maintaining healthy brain tissue. When mutations are present in the POLG polymerase, there is a decrease of mitochondrial DNA
This causes a progressive degeneration of grey matter in the brain. Seizures and liver disease are thought to be a result of the decrease in cellular energy, which is present due to the loss of mitochondria
What increases my risk for Alpers disease?
There are many risk factors for Alpers disease, such as:
- Alpers’ Disease is a genetic disorder inherited in an autosomal recessive pattern. This means that the mutation must be inherited from both parents in order to inherit the disorder and manifest signs and symptoms of Alpers’ Disease
- If the individual only inherits one copy of the mutated gene, then they will be a carrier of the disorder, not showing any signs or symptoms of the disorder
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Alpers disease diagnosed?
A diagnosis of Alper’s disease may involve:
- A complete evaluation of medical history along with a thorough physical exam
- A family history of the disorder is very important
Some of the diagnostic tests may include:
- Evaluation of liver function will show elevation of transaminase enzymes
- Cerebrospinal fluid examination will show elevated levels of proteins and lactate
- POLG DNA testing is the gold-standard for confirming a diagnosis of Alper’s Disease
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
How is Alpers disease treated?
There is no specific treatment for Alpers disease, but symptoms can be relieved to an extent with anticonvulsants. It is important that Sodium Valproate is avoided as this commonly used anticonvulsant can bring on the liver failure. Liver transplant has proved unsuccessful in patients with Alpers disease.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Alpers disease?
The following lifestyles and home remedies might help you cope with Alpers disease:
- Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
- If there is a family history of the condition, then genetic counseling will help assess risks before planning for a child
- Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Alpers’ Disease. http://www.dovemed.com/diseases-conditions/alpers-disease/. Accessed September 6, 2017.
ALPERS DISEASE. http://www.newcastle-mitochondria.com/patient-and-public-home-page/alpers/. Accessed September 6, 2017.
Alpers syndrome. https://rarediseases.info.nih.gov/diseases/5783/alpers-syndrome. Accessed September 6, 2017.
Alpers Disease. http://www.webmd.com/children/alpers-disease. Accessed September 6, 2017.
Review Date: September 6, 2017 | Last Modified: September 13, 2019