Mitochondrial_complex_II_deficiency

Mitochondrial complex II deficiency

Mitochondrial complex II deficiency

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Mitochondrial complex II deficiency, also called CII deficiency, is a rare mitochondrial disease. As of 2013, about thirty-six cases had been reported.[1]

Signs and symptoms

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

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

The most effective way to diagnose CII deficiency is by measuring the activity of complex II in the muscles.[3]

Prognosis

In more severe cases where multiple organ systems are affected, death can occur in early life due to multisystem failure.[1]

References

  1. [1]
    Sciacovelli, Marco; Schmidt, Christina; Maher, Eamonn R.; Frezza, Christian (2020). "Metabolic Drivers in Hereditary Cancer Syndromes". Annual Review of Cancer Biology. 4: 77–97. doi:10.1146/annurev-cancerbio-030419-033612.
  2. [2]
    "Mitochondrial complex II deficiency". Genetic and Rare Diseases Information Center. Retrieved 25 June 2020.
  3. [3]
    "MITOCHONDRIAL COMPLEX II DEFICIENCY". OMIM. Retrieved 25 June 2020.
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