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]

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. 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. "Mitochondrial complex II deficiency". Genetic and Rare Diseases Information Center. Retrieved 25 June 2020.
  3. "MITOCHONDRIAL COMPLEX II DEFICIENCY". OMIM. Retrieved 25 June 2020.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.