MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect

MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect is a very rare inherited brain disease caused by changes (mutations) in a gene called MFF. This gene gives instructions for making a protein that helps divide two important structures inside our cells: mitochondria (the cell's power generators) and peroxisomes (structures that break down harmful substances). When MFF does not work properly, these structures cannot split and renew themselves the way they should. As a result, cells — especially brain cells — do not function well, leading to serious neurological problems. This condition is sometimes referred to as MFF deficiency. It typically appears in infancy or early childhood and mainly affects the brain and nervous system. Children with this condition often have seizures that are hard to control, significant developmental delays, and intellectual disability. Muscle tone problems, movement difficulties, and vision issues are also common. The condition can also affect how the body processes certain fats and other molecules because peroxisomes are not working correctly. There is currently no cure for MFF-related encephalopathy. Treatment focuses on managing symptoms, especially seizures, and supporting development through therapies such as physical, occupational, and speech therapy. A team of specialists is usually needed to provide the best care. Research into this condition is still in early stages, and new findings continue to improve our understanding of how to help affected individuals and families.

Bring these to your next appointment

• Q1.Which anti-seizure medications are most likely to help my child, and what are the side effects?,Should we have genetic testing done on other family members, and what does this mean for future pregnancies?,What therapies — physical, occupational, speech — should we start right away, and how often should they happen?,Are there any clinical trials or research studies we could join?,What signs of worsening should prompt us to seek emergency care?,How often should my child be seen by each specialist, and who should coordinate overall care?,Are there any dietary changes or supplements that might help support mitochondrial or peroxisomal function?

Common questions about MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect