Mitochondrial complex II deficiency
| Mitochondrial complex II deficiency | |
|---|---|
| Other names: Succinate dehydrogenase deficiency,Complex 2 mitochondrial respiratory chain deficiency,Succinate CoQ reductase deficiency,Mitochondrial respiratory chain complex II deficiency[1] | |
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| Depiction of two autozygous regions on chromosome 11 including a 2.37Mb region containing 21 genes which include SDHD | |
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| Specialty | Medical genetics |
Mitochondrial complex II deficiency, also called CII deficiency, is a rare mitochondrial disease. As of 2013, about thirty-six cases had been reported.[2]
Signs and symptoms
Mitochondrial complex II deficiency affects the body's mitochondria[3] 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.[4] 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.[3]
Causes
CII deficiency is a genetic disorder with autosomal recessive inheritance,[4] meaning that a person must inherit a genetic mutation from each parent to be affected.[3] Said mutation may be in the SDHAF1 gene on chromosome 19q13, SDHD gene on chromosome 11q23 or SDHB gene on chromosome 1p36 (for each respective type).[4]
Diagnosis
The most effective way to diagnose CII deficiency is by measuring the activity of complex II in the muscles.[4]
Management
In terms of mitochondrial complex II deficiency, treatment with riboflavin might offer clinical improvement[4]
Prognosis
In more severe cases where multiple organ systems are affected, death can occur in early life due to multisystem failure.[2]
References
- ↑ "GARD Rare Disease Information - Mitochondrial complex II deficiency - National Organization for Rare Disorders". rarediseases.org. 16 June 2022. Archived from the original on 17 August 2022. Retrieved 21 October 2023. Archived 17 August 2022 at the Wayback Machine
- ↑ 2.0 2.1 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.
- ↑ 3.0 3.1 3.2 "Mitochondrial complex II deficiency". Genetic and Rare Diseases Information Center. Archived from the original on 25 June 2020. Retrieved 25 June 2020. Archived 25 June 2020 at the Wayback Machine
- ↑ 4.0 4.1 4.2 4.3 4.4 "MITOCHONDRIAL COMPLEX II DEFICIENCY". OMIM. Archived from the original on 28 June 2020. Retrieved 25 June 2020. Archived 28 June 2020 at the Wayback Machine