Mitochondrial complex II deficiency
Mitochondrial complex II deficiency, also called CII deficiency, is a rare mitochondrial disease. As of 2013, about thirty-six cases had been reported.[1]
Classification and symptoms[edit | edit source]
Mitochondrial complex II deficiency affects the body's mitochondria[2] and can have a variety of presentations. In some cases, the brain, heart, liver, kidneys, and muscles are affected, while in other cases, only the heart and muscles are affected with adult onset.[3] Common symptoms include the Babinski sign, muscle weakness, distal amyotrophy (muscle wasting of the limbs), developmental regression (loss of developmental milestones), and being easy to fatigue.[2]
Causes[edit | edit source]
CII deficiency is a genetic disorder with autosomal recessive inheritance,[3] meaning that a person must inherit a genetic mutation from each parent to be affected.[2]
Diagnosis[edit | edit source]
The most effective way to diagnose CII deficiency is by measuring the activity of complex II in the muscles.[3]
Prognosis[edit | edit source]
In more severe cases where multiple organ systems are affected, death can occur in early life due to multisystem failure.[1]
References[edit | edit source]
- ↑ 1.0 1.1
- ↑ 2.0 2.1 2.2 "Mitochondrial complex II deficiency". Genetic and Rare Diseases Information Center. Retrieved 25 June 2020.
- ↑ 3.0 3.1 3.2 "MITOCHONDRIAL COMPLEX II DEFICIENCY". OMIM. Retrieved 25 June 2020.
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Contributors: Prab R. Tumpati, MD
