SCO2-related mitochondrial complex IV deficiency, also known as cytochrome c oxidase deficiency or Leigh syndrome, is a serious condition that can impact many parts of the body, including the heart, brain, and muscles.
It usually affects babies within their first year of life and they have trouble feeding and breathing, have low muscle tone, abnormal brain scans, and heart problems. While most people have these severe symptoms, there are some rare cases where symptoms are less severe. These individuals may have a condition called axonal polyneuropathy, or Charcot-Marie-Tooth disease type 4, which causes weakness that usually starts in the legs. The severity and age when symptoms start can vary from person to person.
There is no cure for mitochondrial complex IV deficiency, SCO2-related. Treatment focuses on managing specific symptoms. This might include therapy for low muscle tone, treatment for heart problems, help with nutrition, and controlling seizures. Regular check-ups with specialists are important to monitor the condition and adjust treatments as needed.
SCO2-related mitochondrial complex IV deficiency is caused by pathogenic (disease-causing) variants in the SCO2 gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
National Organization for Rare Disorders
Written August 2024
