Also known as: fatty acid oxidation defects, respiratory chain disorders.
What is mitochondrial hepatopathies?
Mitochondria are the components within cells that help the cells generate energy. If the mitochondria do not work properly, it can lead to liver diseases known as mitochondrial hepatopathies.
What causes mitochondrial hepatopathies?
Mitochondrial hepatopathies seem to be caused by genetic mutations. There appears to be a hereditary component to the disease in some cases, and it can be passed down from parents to their children.
What are the symptoms of mitochondrial hepatopathies?
Mitochondrial hepatopathies can cause symptoms such as jaundice (yellowing of the skin and eyes), developmental delays, seizures, vomiting, diarrhea, constipation, abdominal pain, abdominal distension, weakness, failure to thrive and other concerning symptoms.
What are mitochondrial hepatopathies care options?
Unfortunately, mitochondrial hepatopathies are difficult to treat. Certain combinations of medications have shown some effectiveness in treating the symptoms and preventing the progression of the disease. If needed, liver transplant is only an option if the mitochondrial disease involves other organs (particularly the brain, muscles or heart).
Reviewed by: Shifra A Koyfman, MD
This page was last updated on: September 09, 2020 11:25 AM